Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inher...
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Autor*in:	Mireia Boluda-Navarro [verfasserIn] Mariam Ibáñez [verfasserIn] Alessandro Liquori [verfasserIn] Clara Franco-Jarava [verfasserIn] Mónica Martínez-Gallo [verfasserIn] Héctor Rodríguez-Vega [verfasserIn] Jaijo Teresa [verfasserIn] Carmen Carreras [verfasserIn] Esperanza Such [verfasserIn] Ángel Zúñiga [verfasserIn] Roger Colobran [verfasserIn] José Vicente Cervera [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	Chédiak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array

Übergeordnetes Werk:	In: Frontiers in Immunology - Frontiers Media S.A., 2011, 12(2021)
Übergeordnetes Werk:	volume:12 ; year:2021

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3389/fimmu.2021.625591

Katalog-ID:	DOAJ007413424

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allfields	10.3389/fimmu.2021.625591 doi (DE-627)DOAJ007413424 (DE-599)DOAJ77a9f1cd4690426aaaf8d7b36474252a DE-627 ger DE-627 rakwb eng RC581-607 Mireia Boluda-Navarro verfasserin aut Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families. Chédiak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array Immunologic diseases. Allergy Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Alessandro Liquori verfasserin aut Clara Franco-Jarava verfasserin aut Clara Franco-Jarava verfasserin aut Mónica Martínez-Gallo verfasserin aut Mónica Martínez-Gallo verfasserin aut Héctor Rodríguez-Vega verfasserin aut Jaijo Teresa verfasserin aut Carmen Carreras verfasserin aut Esperanza Such verfasserin aut Esperanza Such verfasserin aut Ángel Zúñiga verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut José Vicente Cervera verfasserin aut José Vicente Cervera verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 12(2021) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:12 year:2021 https://doi.org/10.3389/fimmu.2021.625591 kostenfrei https://doaj.org/article/77a9f1cd4690426aaaf8d7b36474252a kostenfrei https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2003 GBV_ILN_2014 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 12 2021
spelling	10.3389/fimmu.2021.625591 doi (DE-627)DOAJ007413424 (DE-599)DOAJ77a9f1cd4690426aaaf8d7b36474252a DE-627 ger DE-627 rakwb eng RC581-607 Mireia Boluda-Navarro verfasserin aut Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families. Chédiak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array Immunologic diseases. Allergy Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Alessandro Liquori verfasserin aut Clara Franco-Jarava verfasserin aut Clara Franco-Jarava verfasserin aut Mónica Martínez-Gallo verfasserin aut Mónica Martínez-Gallo verfasserin aut Héctor Rodríguez-Vega verfasserin aut Jaijo Teresa verfasserin aut Carmen Carreras verfasserin aut Esperanza Such verfasserin aut Esperanza Such verfasserin aut Ángel Zúñiga verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut José Vicente Cervera verfasserin aut José Vicente Cervera verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 12(2021) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:12 year:2021 https://doi.org/10.3389/fimmu.2021.625591 kostenfrei https://doaj.org/article/77a9f1cd4690426aaaf8d7b36474252a kostenfrei https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2003 GBV_ILN_2014 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 12 2021
allfields_unstemmed	10.3389/fimmu.2021.625591 doi (DE-627)DOAJ007413424 (DE-599)DOAJ77a9f1cd4690426aaaf8d7b36474252a DE-627 ger DE-627 rakwb eng RC581-607 Mireia Boluda-Navarro verfasserin aut Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families. Chédiak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array Immunologic diseases. Allergy Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Alessandro Liquori verfasserin aut Clara Franco-Jarava verfasserin aut Clara Franco-Jarava verfasserin aut Mónica Martínez-Gallo verfasserin aut Mónica Martínez-Gallo verfasserin aut Héctor Rodríguez-Vega verfasserin aut Jaijo Teresa verfasserin aut Carmen Carreras verfasserin aut Esperanza Such verfasserin aut Esperanza Such verfasserin aut Ángel Zúñiga verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut José Vicente Cervera verfasserin aut José Vicente Cervera verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 12(2021) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:12 year:2021 https://doi.org/10.3389/fimmu.2021.625591 kostenfrei https://doaj.org/article/77a9f1cd4690426aaaf8d7b36474252a kostenfrei https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2003 GBV_ILN_2014 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 12 2021
allfieldsGer	10.3389/fimmu.2021.625591 doi (DE-627)DOAJ007413424 (DE-599)DOAJ77a9f1cd4690426aaaf8d7b36474252a DE-627 ger DE-627 rakwb eng RC581-607 Mireia Boluda-Navarro verfasserin aut Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families. Chédiak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array Immunologic diseases. Allergy Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Alessandro Liquori verfasserin aut Clara Franco-Jarava verfasserin aut Clara Franco-Jarava verfasserin aut Mónica Martínez-Gallo verfasserin aut Mónica Martínez-Gallo verfasserin aut Héctor Rodríguez-Vega verfasserin aut Jaijo Teresa verfasserin aut Carmen Carreras verfasserin aut Esperanza Such verfasserin aut Esperanza Such verfasserin aut Ángel Zúñiga verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut José Vicente Cervera verfasserin aut José Vicente Cervera verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 12(2021) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:12 year:2021 https://doi.org/10.3389/fimmu.2021.625591 kostenfrei https://doaj.org/article/77a9f1cd4690426aaaf8d7b36474252a kostenfrei https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2003 GBV_ILN_2014 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 12 2021
allfieldsSound	10.3389/fimmu.2021.625591 doi (DE-627)DOAJ007413424 (DE-599)DOAJ77a9f1cd4690426aaaf8d7b36474252a DE-627 ger DE-627 rakwb eng RC581-607 Mireia Boluda-Navarro verfasserin aut Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families. Chédiak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array Immunologic diseases. Allergy Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Mariam Ibáñez verfasserin aut Alessandro Liquori verfasserin aut Clara Franco-Jarava verfasserin aut Clara Franco-Jarava verfasserin aut Mónica Martínez-Gallo verfasserin aut Mónica Martínez-Gallo verfasserin aut Héctor Rodríguez-Vega verfasserin aut Jaijo Teresa verfasserin aut Carmen Carreras verfasserin aut Esperanza Such verfasserin aut Esperanza Such verfasserin aut Ángel Zúñiga verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut Roger Colobran verfasserin aut José Vicente Cervera verfasserin aut José Vicente Cervera verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 12(2021) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:12 year:2021 https://doi.org/10.3389/fimmu.2021.625591 kostenfrei https://doaj.org/article/77a9f1cd4690426aaaf8d7b36474252a kostenfrei https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2003 GBV_ILN_2014 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 12 2021
language	English
source	In Frontiers in Immunology 12(2021) volume:12 year:2021
sourceStr	In Frontiers in Immunology 12(2021) volume:12 year:2021
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Chédiak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array Immunologic diseases. Allergy
isfreeaccess_bool	true
container_title	Frontiers in Immunology
authorswithroles_txt_mv	Mireia Boluda-Navarro @@aut@@ Mariam Ibáñez @@aut@@ Alessandro Liquori @@aut@@ Clara Franco-Jarava @@aut@@ Mónica Martínez-Gallo @@aut@@ Héctor Rodríguez-Vega @@aut@@ Jaijo Teresa @@aut@@ Carmen Carreras @@aut@@ Esperanza Such @@aut@@ Ángel Zúñiga @@aut@@ Roger Colobran @@aut@@ José Vicente Cervera @@aut@@
publishDateDaySort_date	2021-01-01T00:00:00Z
hierarchy_top_id	657998354
id	DOAJ007413424
language_de	englisch
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callnumber-first	R - Medicine
author	Mireia Boluda-Navarro
spellingShingle	Mireia Boluda-Navarro misc RC581-607 misc Chédiak-Higashi syndrome misc CHS misc primary immunodeficiency misc hemophagocytic lymphohistiocytosis misc LYST misc SNP-array misc Immunologic diseases. Allergy Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
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topic_title	RC581-607 Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome Chédiak-Higashi syndrome CHS primary immunodeficiency hemophagocytic lymphohistiocytosis LYST SNP-array
topic	misc RC581-607 misc Chédiak-Higashi syndrome misc CHS misc primary immunodeficiency misc hemophagocytic lymphohistiocytosis misc LYST misc SNP-array misc Immunologic diseases. Allergy
topic_unstemmed	misc RC581-607 misc Chédiak-Higashi syndrome misc CHS misc primary immunodeficiency misc hemophagocytic lymphohistiocytosis misc LYST misc SNP-array misc Immunologic diseases. Allergy
topic_browse	misc RC581-607 misc Chédiak-Higashi syndrome misc CHS misc primary immunodeficiency misc hemophagocytic lymphohistiocytosis misc LYST misc SNP-array misc Immunologic diseases. Allergy
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title	Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
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title_full	Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
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author_browse	Mireia Boluda-Navarro Mariam Ibáñez Alessandro Liquori Clara Franco-Jarava Mónica Martínez-Gallo Héctor Rodríguez-Vega Jaijo Teresa Carmen Carreras Esperanza Such Ángel Zúñiga Roger Colobran José Vicente Cervera
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title_sort	case report: partial uniparental disomy unmasks a novel recessive mutation in the lyst gene in a patient with a severe phenotype of chédiak-higashi syndrome
callnumber	RC581-607
title_auth	Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
abstract	Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families.
abstractGer	Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families.
abstract_unstemmed	Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families.
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title_short	Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
url	https://doi.org/10.3389/fimmu.2021.625591 https://doaj.org/article/77a9f1cd4690426aaaf8d7b36474252a https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full https://doaj.org/toc/1664-3224
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up_date	2024-07-04T01:28:51.804Z
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Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

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