DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Heterotaxy (HTX), a condition characterized by internal organs not being arranged as expected relative to each other and to the left-right axis, is often accompanied with congenital heart disease (CHD). The purpose was to detect the pathogenic variants in a Chinese family with HTX and CHD. A non-con...

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Autores principales:	Hong Xia, Xiangjun Huang, Sheng Deng, Hongbo Xu, Yan Yang, Xin Liu, Lamei Yuan, Hao Deng
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/65cd841ff16b41f79b1a85531f541223
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spelling	oai:doaj.org-article:65cd841ff16b41f79b1a85531f5412232021-12-02T20:10:36ZDNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.1932-620310.1371/journal.pone.0252786https://doaj.org/article/65cd841ff16b41f79b1a85531f5412232021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0252786https://doaj.org/toc/1932-6203Heterotaxy (HTX), a condition characterized by internal organs not being arranged as expected relative to each other and to the left-right axis, is often accompanied with congenital heart disease (CHD). The purpose was to detect the pathogenic variants in a Chinese family with HTX and CHD. A non-consanguineous Han Chinese family with HTX and CHD, and 200 unrelated healthy subjects were enlisted. Exome sequencing and Sanger sequencing were applied to identify the genetic basis of the HTX family. Compound heterozygous variants, c.3426-1G>A and c.4306C>T (p.(Arg1436Trp)), in the dynein axonemal heavy chain 11 gene (DNAH11) were identified in the proband via exome sequencing and further confirmed by Sanger sequencing. Neither c.3426-1G>A nor c.4306C>T variant in the DNAH11 gene was detected in 200 healthy controls. The DNAH11 c.3426-1G>A variant was predicted as altering the acceptor splice site and most likely affecting splicing. The DNAH11 c.4306C>T variant was predicted to be damaging, which may reduce the phenotype severity. The compound heterozygous variants, c.3426-1G>A and c.4306C>T, in the DNAH11 gene might be the pathogenic alterations resulting in HTX and CHD in this family. These findings broaden the variant spectrum of the DNAH11 gene and increase knowledge used in genetic counseling for the HTX family.Hong XiaXiangjun HuangSheng DengHongbo XuYan YangXin LiuLamei YuanHao DengPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 6, p e0252786 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Hong Xia Xiangjun Huang Sheng Deng Hongbo Xu Yan Yang Xin Liu Lamei Yuan Hao Deng DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
description	Heterotaxy (HTX), a condition characterized by internal organs not being arranged as expected relative to each other and to the left-right axis, is often accompanied with congenital heart disease (CHD). The purpose was to detect the pathogenic variants in a Chinese family with HTX and CHD. A non-consanguineous Han Chinese family with HTX and CHD, and 200 unrelated healthy subjects were enlisted. Exome sequencing and Sanger sequencing were applied to identify the genetic basis of the HTX family. Compound heterozygous variants, c.3426-1G>A and c.4306C>T (p.(Arg1436Trp)), in the dynein axonemal heavy chain 11 gene (DNAH11) were identified in the proband via exome sequencing and further confirmed by Sanger sequencing. Neither c.3426-1G>A nor c.4306C>T variant in the DNAH11 gene was detected in 200 healthy controls. The DNAH11 c.3426-1G>A variant was predicted as altering the acceptor splice site and most likely affecting splicing. The DNAH11 c.4306C>T variant was predicted to be damaging, which may reduce the phenotype severity. The compound heterozygous variants, c.3426-1G>A and c.4306C>T, in the DNAH11 gene might be the pathogenic alterations resulting in HTX and CHD in this family. These findings broaden the variant spectrum of the DNAH11 gene and increase knowledge used in genetic counseling for the HTX family.
format	article
author	Hong Xia Xiangjun Huang Sheng Deng Hongbo Xu Yan Yang Xin Liu Lamei Yuan Hao Deng
author_facet	Hong Xia Xiangjun Huang Sheng Deng Hongbo Xu Yan Yang Xin Liu Lamei Yuan Hao Deng
author_sort	Hong Xia
title	DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
title_short	DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
title_full	DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
title_fullStr	DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
title_full_unstemmed	DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
title_sort	dnah11 compound heterozygous variants cause heterotaxy and congenital heart disease.
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/65cd841ff16b41f79b1a85531f541223
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DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

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