Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Rosa Maria Paragliola [verfasserIn] Alessia Perrucci [verfasserIn] Laura Foca [verfasserIn] Andrea Urbani [verfasserIn] Paola Concolino [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	congenital adrenal hyperplasia Ehlers–Danlos syndrome CAH-X syndrome

Übergeordnetes Werk:	In: Journal of Clinical Medicine - MDPI AG, 2013, 11(2022), 13, p 3818
Übergeordnetes Werk:	volume:11 ; year:2022 ; number:13, p 3818

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/jcm11133818

Katalog-ID:	DOAJ029088801

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520			\|a 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population.
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allfields	10.3390/jcm11133818 doi (DE-627)DOAJ029088801 (DE-599)DOAJ706ddde6247c4138ac1fd2bb15178d95 DE-627 ger DE-627 rakwb eng Rosa Maria Paragliola verfasserin aut Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population. congenital adrenal hyperplasia Ehlers–Danlos syndrome CAH-X syndrome Medicine R Alessia Perrucci verfasserin aut Laura Foca verfasserin aut Andrea Urbani verfasserin aut Paola Concolino verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 11(2022), 13, p 3818 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:11 year:2022 number:13, p 3818 https://doi.org/10.3390/jcm11133818 kostenfrei https://doaj.org/article/706ddde6247c4138ac1fd2bb15178d95 kostenfrei https://www.mdpi.com/2077-0383/11/13/3818 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 11 2022 13, p 3818
spelling	10.3390/jcm11133818 doi (DE-627)DOAJ029088801 (DE-599)DOAJ706ddde6247c4138ac1fd2bb15178d95 DE-627 ger DE-627 rakwb eng Rosa Maria Paragliola verfasserin aut Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population. congenital adrenal hyperplasia Ehlers–Danlos syndrome CAH-X syndrome Medicine R Alessia Perrucci verfasserin aut Laura Foca verfasserin aut Andrea Urbani verfasserin aut Paola Concolino verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 11(2022), 13, p 3818 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:11 year:2022 number:13, p 3818 https://doi.org/10.3390/jcm11133818 kostenfrei https://doaj.org/article/706ddde6247c4138ac1fd2bb15178d95 kostenfrei https://www.mdpi.com/2077-0383/11/13/3818 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 11 2022 13, p 3818
allfields_unstemmed	10.3390/jcm11133818 doi (DE-627)DOAJ029088801 (DE-599)DOAJ706ddde6247c4138ac1fd2bb15178d95 DE-627 ger DE-627 rakwb eng Rosa Maria Paragliola verfasserin aut Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population. congenital adrenal hyperplasia Ehlers–Danlos syndrome CAH-X syndrome Medicine R Alessia Perrucci verfasserin aut Laura Foca verfasserin aut Andrea Urbani verfasserin aut Paola Concolino verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 11(2022), 13, p 3818 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:11 year:2022 number:13, p 3818 https://doi.org/10.3390/jcm11133818 kostenfrei https://doaj.org/article/706ddde6247c4138ac1fd2bb15178d95 kostenfrei https://www.mdpi.com/2077-0383/11/13/3818 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 11 2022 13, p 3818
allfieldsGer	10.3390/jcm11133818 doi (DE-627)DOAJ029088801 (DE-599)DOAJ706ddde6247c4138ac1fd2bb15178d95 DE-627 ger DE-627 rakwb eng Rosa Maria Paragliola verfasserin aut Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population. congenital adrenal hyperplasia Ehlers–Danlos syndrome CAH-X syndrome Medicine R Alessia Perrucci verfasserin aut Laura Foca verfasserin aut Andrea Urbani verfasserin aut Paola Concolino verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 11(2022), 13, p 3818 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:11 year:2022 number:13, p 3818 https://doi.org/10.3390/jcm11133818 kostenfrei https://doaj.org/article/706ddde6247c4138ac1fd2bb15178d95 kostenfrei https://www.mdpi.com/2077-0383/11/13/3818 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 11 2022 13, p 3818
allfieldsSound	10.3390/jcm11133818 doi (DE-627)DOAJ029088801 (DE-599)DOAJ706ddde6247c4138ac1fd2bb15178d95 DE-627 ger DE-627 rakwb eng Rosa Maria Paragliola verfasserin aut Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population. congenital adrenal hyperplasia Ehlers–Danlos syndrome CAH-X syndrome Medicine R Alessia Perrucci verfasserin aut Laura Foca verfasserin aut Andrea Urbani verfasserin aut Paola Concolino verfasserin aut In Journal of Clinical Medicine MDPI AG, 2013 11(2022), 13, p 3818 (DE-627)718632478 (DE-600)2662592-1 20770383 nnns volume:11 year:2022 number:13, p 3818 https://doi.org/10.3390/jcm11133818 kostenfrei https://doaj.org/article/706ddde6247c4138ac1fd2bb15178d95 kostenfrei https://www.mdpi.com/2077-0383/11/13/3818 kostenfrei https://doaj.org/toc/2077-0383 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 11 2022 13, p 3818
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author	Rosa Maria Paragliola
spellingShingle	Rosa Maria Paragliola misc congenital adrenal hyperplasia misc Ehlers–Danlos syndrome misc CAH-X syndrome misc Medicine misc R Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
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topic_title	Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency congenital adrenal hyperplasia Ehlers–Danlos syndrome CAH-X syndrome
topic	misc congenital adrenal hyperplasia misc Ehlers–Danlos syndrome misc CAH-X syndrome misc Medicine misc R
topic_unstemmed	misc congenital adrenal hyperplasia misc Ehlers–Danlos syndrome misc CAH-X syndrome misc Medicine misc R
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title	Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
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title_full	Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
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title_sort	prevalence of cah-x syndrome in italian patients with congenital adrenal hyperplasia (cah) due to 21-hydroxylase deficiency
title_auth	Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
abstract	21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population.
abstractGer	21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population.
abstract_unstemmed	21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in <i<CYP21A2</i< gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. A CAH-X prevalence of 10.7% was estimated in our population.
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title_short	Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
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The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The <i<CYP21A2</i< gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3′untranslated sequence of <i<CYP21A2</i< exon 10 overlap the last exon of <i<TNXB</i< gene (these genes lie on the opposite strands of DNA and have the opposite transcriptional direction) that encodes an extracellular matrix glycoprotein tenascin-X (TNX). A recombination event between <i<TNXB</i< and its pseudogene <i<TNXA</i< causes a 30 kb deletion producing a chimeric <i<TNXA/TNXB</i< gene (CAH-X chimera) where both <i<CYP21A2</i< and <i<TNXB</i< genes are impaired. This genetic condition characterizes a subset of patients with 21OHD who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) (CAH-X Syndrome). The aim of this study was to assess the prevalence of CAH-X syndrome in an Italian cohort of patients with 21OHD. At this purpose, 196 probands were recruited. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were used to identify the CAH-X genotype. Twenty-one individuals showed the heterozygous continuous deletion involving the <i<CYP21A2</i< and part of the <i<TNXB</i< gene. EDS-related clinical manifestations were identified in most patients carrying the CAH-X chimera. 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Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

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