A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1

被引：17

作者：

Raza, Syed Irfan ^{[1
,2
]}

Dar, Rashid Nasser ^{[3
]}

Shah, Anwar Ali ^{[4
]}

Ahmad, Wasim ^{[1
]}

机构：

[1] Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan

[2] NUST, Army Med Coll, Islamabad, Pakistan

[3] Combined Mil Hosp, Rawalpindi, Pakistan

[4] Shifa Int Hosp, Islamabad, Pakistan

来源：

ANNALS OF HUMAN GENETICS | 2015年 / 79卷 / 02期

关键词：

Ectodermal dysplasia syndactyly syndrome; expansion of clinical features; PVRL4; gene; nonsense mutation; DYSPLASIA-SYNDACTYLY SYNDROME; ECTODERMAL-DYSPLASIA; CELL-ADHESION; NECTIN-4; JUNCTIONS; AFADIN;

D O I：

10.1111/ahg.12094

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Ectodermal dysplasias (EDs) belong to a group of genetic diseases which result from alterations in ectoderm-derived appendages including hair, nail, teeth and sweat glands. Ectodermal dysplasia syndactyly syndrome (EDSS1) is one of the rare forms of ED caused by mutations in nectin-4, encoded by the PVRL4 gene. The present study described clinical investigation of the EDSS1 identified in a large consanguineous family. Furthermore, DNA sequence analysis revealed a novel homozygous nonsense mutation (181C>T, p.Asp61*) in the PVRL4 gene.

引用

页码：92 / 98

页数：7

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