Cargando…

Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene

Congenital cataracts (CCs) have significant genotypic and phenotypic heterogeneity. The major intrinsic protein (MIP) gene, one of the causative genes of CCs, plays a vital role in maintaining the homeostasis and transparency of the lens. In this study, we identified a unique phenotype of anterior u...

Descripción completa

Detalles Bibliográficos
Autores principales: Cheng, Zhixing, Wang, Xun, Wang, Qiwei, Zhang, Xulin, Wang, Dongni, Huang, Weiming, Dongye, Meimei, Feng, Xiaocheng, Zheng, Danying, Lin, Haotian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690445/
https://www.ncbi.nlm.nih.gov/pubmed/36360224
http://dx.doi.org/10.3390/genes13111987
_version_ 1784836790492856320
author Cheng, Zhixing
Wang, Xun
Wang, Qiwei
Zhang, Xulin
Wang, Dongni
Huang, Weiming
Dongye, Meimei
Feng, Xiaocheng
Zheng, Danying
Lin, Haotian
author_facet Cheng, Zhixing
Wang, Xun
Wang, Qiwei
Zhang, Xulin
Wang, Dongni
Huang, Weiming
Dongye, Meimei
Feng, Xiaocheng
Zheng, Danying
Lin, Haotian
author_sort Cheng, Zhixing
collection PubMed
description Congenital cataracts (CCs) have significant genotypic and phenotypic heterogeneity. The major intrinsic protein (MIP) gene, one of the causative genes of CCs, plays a vital role in maintaining the homeostasis and transparency of the lens. In this study, we identified a unique phenotype of anterior umbilication of the lens in a four-generation pedigree with CCs. All patients in the observed family had nystagmus, nuclear cataracts, and elongated axial lengths compared with their healthy counterparts except for patient I:2, whose axial length was unavailable, and patientII:4, who had total cataracts. We confirmed, using Sanger sequencing based on whole-exon sequencing (WES) data, that all patients carried a heterozygous variant NM_012064.4:c.97C > T (NP_036196.1:p.R33C) in their MIP gene. To our knowledge, 29 variants of the human MIP gene and the relative phenotypes associated with CCs have been identified. Nevertheless, this is the first report on the anterior umbilication of the lens with nuclear or total opacity caused by the c.97C > T (p.R33C) variant in the MIP gene. These results also provide evidence that the elongated axial length might be associated with this variant. This study further confirms the phenotypic heterogeneity of CCs.
format Online
Article
Text
id pubmed-9690445
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-96904452022-11-25 Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene Cheng, Zhixing Wang, Xun Wang, Qiwei Zhang, Xulin Wang, Dongni Huang, Weiming Dongye, Meimei Feng, Xiaocheng Zheng, Danying Lin, Haotian Genes (Basel) Article Congenital cataracts (CCs) have significant genotypic and phenotypic heterogeneity. The major intrinsic protein (MIP) gene, one of the causative genes of CCs, plays a vital role in maintaining the homeostasis and transparency of the lens. In this study, we identified a unique phenotype of anterior umbilication of the lens in a four-generation pedigree with CCs. All patients in the observed family had nystagmus, nuclear cataracts, and elongated axial lengths compared with their healthy counterparts except for patient I:2, whose axial length was unavailable, and patientII:4, who had total cataracts. We confirmed, using Sanger sequencing based on whole-exon sequencing (WES) data, that all patients carried a heterozygous variant NM_012064.4:c.97C > T (NP_036196.1:p.R33C) in their MIP gene. To our knowledge, 29 variants of the human MIP gene and the relative phenotypes associated with CCs have been identified. Nevertheless, this is the first report on the anterior umbilication of the lens with nuclear or total opacity caused by the c.97C > T (p.R33C) variant in the MIP gene. These results also provide evidence that the elongated axial length might be associated with this variant. This study further confirms the phenotypic heterogeneity of CCs. MDPI 2022-10-31 /pmc/articles/PMC9690445/ /pubmed/36360224 http://dx.doi.org/10.3390/genes13111987 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Cheng, Zhixing
Wang, Xun
Wang, Qiwei
Zhang, Xulin
Wang, Dongni
Huang, Weiming
Dongye, Meimei
Feng, Xiaocheng
Zheng, Danying
Lin, Haotian
Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene
title Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene
title_full Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene
title_fullStr Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene
title_full_unstemmed Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene
title_short Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene
title_sort anterior umbilication of lens in a family with congenital cataracts associated with a missense mutation of mip gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690445/
https://www.ncbi.nlm.nih.gov/pubmed/36360224
http://dx.doi.org/10.3390/genes13111987
work_keys_str_mv AT chengzhixing anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT wangxun anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT wangqiwei anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT zhangxulin anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT wangdongni anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT huangweiming anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT dongyemeimei anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT fengxiaocheng anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT zhengdanying anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene
AT linhaotian anteriorumbilicationoflensinafamilywithcongenitalcataractsassociatedwithamissensemutationofmipgene