Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

Abstract Background The condition of uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent. Most cases of uniparental heterodisomy (UPhD) do not cause diseases, whereas cases of uniparental isodisomy (UPiD), while rare, may b...

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Autores principales:	Hua Wang, Liang Huo, Yajian Wang, Weiwei Sun, Weiyue Gu
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	GSD3 trio whole exome sequencing UPiD USH2A Genetics QH426-470
Acceso en línea:	https://doaj.org/article/695f346f135a4326bb8f7016e3ba0d8d
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spelling	oai:doaj.org-article:695f346f135a4326bb8f7016e3ba0d8d2021-11-10T16:39:24ZUsher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient2324-926910.1002/mgg3.1779https://doaj.org/article/695f346f135a4326bb8f7016e3ba0d8d2021-10-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1779https://doaj.org/toc/2324-9269Abstract Background The condition of uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent. Most cases of uniparental heterodisomy (UPhD) do not cause diseases, whereas cases of uniparental isodisomy (UPiD), while rare, may be pathogenic. Theoretically, UPiD may cause rare genetic diseases in a homozygous recessive manner. Methods A 4‐year‐old girl presented with congenital hearing loss, developmental delay, hepatomegaly, and other clinical features. She and her parents were genetically tested using trio whole exome sequencing (Trio‐WES) and copy number variation sequencing (CNV‐seq). In addition, we built a structural model to further examine the pathogenicity of the UPiD variants. Results Trio‐WES identified a paternal UPiD in chromosome 1, and two homozygous pathogenic variants AGL c.4284T>G/p.Tyr1428* and USH2A c.6528T>A/p.Tyr2176* in the UPiD region. We further analyzed the pathogenicity of these two variations. The patient was diagnosed with Usher syndrome type 2A (USH2A) and glycogen storage disease type III (GSD3). Conclusions Our study reports a rare case of a patient carrying two pathogenic variants of different genes caused by paternal UPiD, supporting the potential application of Trio‐WES in detecting and facilitating the diagnosis of UPD.Hua WangLiang HuoYajian WangWeiwei SunWeiyue GuWileyarticleGSD3trio whole exome sequencingUPiDUSH2AGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	GSD3 trio whole exome sequencing UPiD USH2A Genetics QH426-470
spellingShingle	GSD3 trio whole exome sequencing UPiD USH2A Genetics QH426-470 Hua Wang Liang Huo Yajian Wang Weiwei Sun Weiyue Gu Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
description	Abstract Background The condition of uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent. Most cases of uniparental heterodisomy (UPhD) do not cause diseases, whereas cases of uniparental isodisomy (UPiD), while rare, may be pathogenic. Theoretically, UPiD may cause rare genetic diseases in a homozygous recessive manner. Methods A 4‐year‐old girl presented with congenital hearing loss, developmental delay, hepatomegaly, and other clinical features. She and her parents were genetically tested using trio whole exome sequencing (Trio‐WES) and copy number variation sequencing (CNV‐seq). In addition, we built a structural model to further examine the pathogenicity of the UPiD variants. Results Trio‐WES identified a paternal UPiD in chromosome 1, and two homozygous pathogenic variants AGL c.4284T>G/p.Tyr1428* and USH2A c.6528T>A/p.Tyr2176* in the UPiD region. We further analyzed the pathogenicity of these two variations. The patient was diagnosed with Usher syndrome type 2A (USH2A) and glycogen storage disease type III (GSD3). Conclusions Our study reports a rare case of a patient carrying two pathogenic variants of different genes caused by paternal UPiD, supporting the potential application of Trio‐WES in detecting and facilitating the diagnosis of UPD.
format	article
author	Hua Wang Liang Huo Yajian Wang Weiwei Sun Weiyue Gu
author_facet	Hua Wang Liang Huo Yajian Wang Weiwei Sun Weiyue Gu
author_sort	Hua Wang
title	Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
title_short	Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
title_full	Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
title_fullStr	Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
title_full_unstemmed	Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
title_sort	usher syndrome type 2a complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/695f346f135a4326bb8f7016e3ba0d8d
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_version_	1718439877651988480

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

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