当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.

A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.

Abstract：

:Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA gene, which encodes ectodysplasin-A, are responsible for X-linked HED (XLHED). In the present study, we identified a Chinese Han family with XLHED. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of EDA identified a novel de novo mutation, c.573_574insT, in two affected males and one carrier female. Restriction fragment length polymorphism (RFLP) analysis showed that the mutation was not present in 200 controls. The 1-bp insertion mutation resulted in a frameshift, which causes premature termination of EDA polypeptide and truncation of the EDA protein. These results suggest that the c.573_574insT mutation of the EDA gene is a cause for XLHED in the family. To the best of our knowledge, this is the first de novo insertion mutation of EDA described for XLHED.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Huang C,Yang Q,Ke T,Wang H,Wang X,Shen J,Tu X,Tian J,Liu JY,Wang QK,Liu M

doi

10.1007/s10038-006-0071-8

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

1133-1137

issue

12

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-006-0071-8

journal_volume

51

pub_type

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