Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overl...
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Autor*in:	Inashkina, Inna [verfasserIn] Jankevics, Eriks Stavusis, Janis Vasiljeva, Inta Viksne, Kristine Micule, Ieva Strautmanis, Jurgis Naudina, Maruta S. Cimbalistiene, Loreta Kucinskas, Vaidutis Krumina, Astrida Utkus, Algirdas Burnyte, Birute Matuleviciene, Ausra Lace, Baiba

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2016

Schlagwörter:	Limb-girdle muscular dystrophies Illumina VeraCode GoldenGate Calpain 3 c.550delA Fukutin related protein

Anmerkung:	© Inashkina et al. 2016

Übergeordnetes Werk:	Enthalten in: BMC musculoskeletal disorders - London : BioMed Central, 2000, 17(2016), 1 vom: 04. Mai
Übergeordnetes Werk:	volume:17 ; year:2016 ; number:1 ; day:04 ; month:05

Links:	Volltext

DOI / URN:	10.1186/s12891-016-1058-z

Katalog-ID:	SPR02803645X

Internformat


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520			\|a Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003.
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700	1		\|a Matuleviciene, Ausra \|4 aut
700	1		\|a Lace, Baiba \|4 aut
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912			\|a GBV_ILN_4367
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allfields	10.1186/s12891-016-1058-z doi (DE-627)SPR02803645X (SPR)s12891-016-1058-z-e DE-627 ger DE-627 rakwb eng Inashkina, Inna verfasserin aut Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Inashkina et al. 2016 Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003. Limb-girdle muscular dystrophies (dpeaa)DE-He213 Illumina VeraCode GoldenGate (dpeaa)DE-He213 Calpain 3 c.550delA (dpeaa)DE-He213 Fukutin related protein (dpeaa)DE-He213 Jankevics, Eriks aut Stavusis, Janis aut Vasiljeva, Inta aut Viksne, Kristine aut Micule, Ieva aut Strautmanis, Jurgis aut Naudina, Maruta S. aut Cimbalistiene, Loreta aut Kucinskas, Vaidutis aut Krumina, Astrida aut Utkus, Algirdas aut Burnyte, Birute aut Matuleviciene, Ausra aut Lace, Baiba aut Enthalten in BMC musculoskeletal disorders London : BioMed Central, 2000 17(2016), 1 vom: 04. Mai (DE-627)326643745 (DE-600)2041355-5 1471-2474 nnns volume:17 year:2016 number:1 day:04 month:05 https://dx.doi.org/10.1186/s12891-016-1058-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 04 05
spelling	10.1186/s12891-016-1058-z doi (DE-627)SPR02803645X (SPR)s12891-016-1058-z-e DE-627 ger DE-627 rakwb eng Inashkina, Inna verfasserin aut Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Inashkina et al. 2016 Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003. Limb-girdle muscular dystrophies (dpeaa)DE-He213 Illumina VeraCode GoldenGate (dpeaa)DE-He213 Calpain 3 c.550delA (dpeaa)DE-He213 Fukutin related protein (dpeaa)DE-He213 Jankevics, Eriks aut Stavusis, Janis aut Vasiljeva, Inta aut Viksne, Kristine aut Micule, Ieva aut Strautmanis, Jurgis aut Naudina, Maruta S. aut Cimbalistiene, Loreta aut Kucinskas, Vaidutis aut Krumina, Astrida aut Utkus, Algirdas aut Burnyte, Birute aut Matuleviciene, Ausra aut Lace, Baiba aut Enthalten in BMC musculoskeletal disorders London : BioMed Central, 2000 17(2016), 1 vom: 04. Mai (DE-627)326643745 (DE-600)2041355-5 1471-2474 nnns volume:17 year:2016 number:1 day:04 month:05 https://dx.doi.org/10.1186/s12891-016-1058-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 04 05
allfields_unstemmed	10.1186/s12891-016-1058-z doi (DE-627)SPR02803645X (SPR)s12891-016-1058-z-e DE-627 ger DE-627 rakwb eng Inashkina, Inna verfasserin aut Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Inashkina et al. 2016 Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003. Limb-girdle muscular dystrophies (dpeaa)DE-He213 Illumina VeraCode GoldenGate (dpeaa)DE-He213 Calpain 3 c.550delA (dpeaa)DE-He213 Fukutin related protein (dpeaa)DE-He213 Jankevics, Eriks aut Stavusis, Janis aut Vasiljeva, Inta aut Viksne, Kristine aut Micule, Ieva aut Strautmanis, Jurgis aut Naudina, Maruta S. aut Cimbalistiene, Loreta aut Kucinskas, Vaidutis aut Krumina, Astrida aut Utkus, Algirdas aut Burnyte, Birute aut Matuleviciene, Ausra aut Lace, Baiba aut Enthalten in BMC musculoskeletal disorders London : BioMed Central, 2000 17(2016), 1 vom: 04. Mai (DE-627)326643745 (DE-600)2041355-5 1471-2474 nnns volume:17 year:2016 number:1 day:04 month:05 https://dx.doi.org/10.1186/s12891-016-1058-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 04 05
allfieldsGer	10.1186/s12891-016-1058-z doi (DE-627)SPR02803645X (SPR)s12891-016-1058-z-e DE-627 ger DE-627 rakwb eng Inashkina, Inna verfasserin aut Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Inashkina et al. 2016 Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003. Limb-girdle muscular dystrophies (dpeaa)DE-He213 Illumina VeraCode GoldenGate (dpeaa)DE-He213 Calpain 3 c.550delA (dpeaa)DE-He213 Fukutin related protein (dpeaa)DE-He213 Jankevics, Eriks aut Stavusis, Janis aut Vasiljeva, Inta aut Viksne, Kristine aut Micule, Ieva aut Strautmanis, Jurgis aut Naudina, Maruta S. aut Cimbalistiene, Loreta aut Kucinskas, Vaidutis aut Krumina, Astrida aut Utkus, Algirdas aut Burnyte, Birute aut Matuleviciene, Ausra aut Lace, Baiba aut Enthalten in BMC musculoskeletal disorders London : BioMed Central, 2000 17(2016), 1 vom: 04. Mai (DE-627)326643745 (DE-600)2041355-5 1471-2474 nnns volume:17 year:2016 number:1 day:04 month:05 https://dx.doi.org/10.1186/s12891-016-1058-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 04 05
allfieldsSound	10.1186/s12891-016-1058-z doi (DE-627)SPR02803645X (SPR)s12891-016-1058-z-e DE-627 ger DE-627 rakwb eng Inashkina, Inna verfasserin aut Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Inashkina et al. 2016 Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003. Limb-girdle muscular dystrophies (dpeaa)DE-He213 Illumina VeraCode GoldenGate (dpeaa)DE-He213 Calpain 3 c.550delA (dpeaa)DE-He213 Fukutin related protein (dpeaa)DE-He213 Jankevics, Eriks aut Stavusis, Janis aut Vasiljeva, Inta aut Viksne, Kristine aut Micule, Ieva aut Strautmanis, Jurgis aut Naudina, Maruta S. aut Cimbalistiene, Loreta aut Kucinskas, Vaidutis aut Krumina, Astrida aut Utkus, Algirdas aut Burnyte, Birute aut Matuleviciene, Ausra aut Lace, Baiba aut Enthalten in BMC musculoskeletal disorders London : BioMed Central, 2000 17(2016), 1 vom: 04. Mai (DE-627)326643745 (DE-600)2041355-5 1471-2474 nnns volume:17 year:2016 number:1 day:04 month:05 https://dx.doi.org/10.1186/s12891-016-1058-z kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 04 05
language	English
source	Enthalten in BMC musculoskeletal disorders 17(2016), 1 vom: 04. Mai volume:17 year:2016 number:1 day:04 month:05
sourceStr	Enthalten in BMC musculoskeletal disorders 17(2016), 1 vom: 04. Mai volume:17 year:2016 number:1 day:04 month:05
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Limb-girdle muscular dystrophies Illumina VeraCode GoldenGate Calpain 3 c.550delA Fukutin related protein
isfreeaccess_bool	true
container_title	BMC musculoskeletal disorders
authorswithroles_txt_mv	Inashkina, Inna @@aut@@ Jankevics, Eriks @@aut@@ Stavusis, Janis @@aut@@ Vasiljeva, Inta @@aut@@ Viksne, Kristine @@aut@@ Micule, Ieva @@aut@@ Strautmanis, Jurgis @@aut@@ Naudina, Maruta S. @@aut@@ Cimbalistiene, Loreta @@aut@@ Kucinskas, Vaidutis @@aut@@ Krumina, Astrida @@aut@@ Utkus, Algirdas @@aut@@ Burnyte, Birute @@aut@@ Matuleviciene, Ausra @@aut@@ Lace, Baiba @@aut@@
publishDateDaySort_date	2016-05-04T00:00:00Z
hierarchy_top_id	326643745
id	SPR02803645X
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR02803645X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519130559.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201007s2016 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/s12891-016-1058-z</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR02803645X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s12891-016-1058-z-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Inashkina, Inna</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2016</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© Inashkina et al. 2016</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. 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author	Inashkina, Inna
spellingShingle	Inashkina, Inna misc Limb-girdle muscular dystrophies misc Illumina VeraCode GoldenGate misc Calpain 3 c.550delA misc Fukutin related protein Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
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topic_title	Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies Limb-girdle muscular dystrophies (dpeaa)DE-He213 Illumina VeraCode GoldenGate (dpeaa)DE-He213 Calpain 3 c.550delA (dpeaa)DE-He213 Fukutin related protein (dpeaa)DE-He213
topic	misc Limb-girdle muscular dystrophies misc Illumina VeraCode GoldenGate misc Calpain 3 c.550delA misc Fukutin related protein
topic_unstemmed	misc Limb-girdle muscular dystrophies misc Illumina VeraCode GoldenGate misc Calpain 3 c.550delA misc Fukutin related protein
topic_browse	misc Limb-girdle muscular dystrophies misc Illumina VeraCode GoldenGate misc Calpain 3 c.550delA misc Fukutin related protein
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title	Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
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title_full	Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
author_sort	Inashkina, Inna
journal	BMC musculoskeletal disorders
journalStr	BMC musculoskeletal disorders
lang_code	eng
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author_browse	Inashkina, Inna Jankevics, Eriks Stavusis, Janis Vasiljeva, Inta Viksne, Kristine Micule, Ieva Strautmanis, Jurgis Naudina, Maruta S. Cimbalistiene, Loreta Kucinskas, Vaidutis Krumina, Astrida Utkus, Algirdas Burnyte, Birute Matuleviciene, Ausra Lace, Baiba
container_volume	17
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author-letter	Inashkina, Inna
doi_str_mv	10.1186/s12891-016-1058-z
title_sort	robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
title_auth	Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
abstract	Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003. © Inashkina et al. 2016
abstractGer	Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003. © Inashkina et al. 2016
abstract_unstemmed	Background Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. The allele frequencies of CAPN3 gene mutation c.2288A > G and DYSF gene mutation c.4872delG are 0.003. © Inashkina et al. 2016
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title_short	Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
url	https://dx.doi.org/10.1186/s12891-016-1058-z
remote_bool	true
author2	Jankevics, Eriks Stavusis, Janis Vasiljeva, Inta Viksne, Kristine Micule, Ieva Strautmanis, Jurgis Naudina, Maruta S. Cimbalistiene, Loreta Kucinskas, Vaidutis Krumina, Astrida Utkus, Algirdas Burnyte, Birute Matuleviciene, Ausra Lace, Baiba
author2Str	Jankevics, Eriks Stavusis, Janis Vasiljeva, Inta Viksne, Kristine Micule, Ieva Strautmanis, Jurgis Naudina, Maruta S. Cimbalistiene, Loreta Kucinskas, Vaidutis Krumina, Astrida Utkus, Algirdas Burnyte, Birute Matuleviciene, Ausra Lace, Baiba
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Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. Methods We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain 3 (CAPN3), anoctamin 5 (ANO5) and fukutin related protein (FKRP) genes. Results Analysis revealed a homozygous CAPN3 c.550delA mutation in eight patients and three heterozygous variants in controls: dysferlin (DYSF) c.5028delG, CAPN3 c.2288A > G, and FKRP c.135C > T. Additionally, three mutations within FKRP gene were found: homozygous c.826C > A, and two compound – c.826C > A/c.404_405insT and c.826C > A/c.204_206delCTC mutations, and one mutation within CLCN1 gene – c.2680C > T p.Arg894Ter. ANO5 c.191dupA was not present. Conclusions Genetic diagnosis was possible in 12 of 60 patients (20 %). The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029. 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Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

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