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突尼斯家族中无虹膜和先天性白内障的PAX6基因分子分析。

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.

作者信息

Chograni Manèl, Derouiche Kaouther, Chaabouni Myriam, Lariani Imen, Bouhamed Habiba Chaabouni

机构信息

Faculté de Médecine de Tunis, Laboratoire Génétique Humaine , Tunis, Tunisia.

Faculté de Médecine de Tunis, Laboratoire Génétique Humaine, Tunis, Tunisia; Charles Nicolle Hospital, Congenital and Hereditary Disorders Department, Tunis, Tunisia.

出版信息

Hum Genome Var. 2014 Sep 4;1:14008. doi: 10.1038/hgv.2014.8. eCollection 2014.

DOI:10.1038/hgv.2014.8
PMID:27081502
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4785518/
Abstract

The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6 was detected in the four affected members. This study adds new mutation to those previously reported in PAX6, providing further evidence for the genetic and phenotypic heterogeneity in individuals with aniridia ocular malformations.

摘要

本研究的目的是确定导致两个突尼斯家庭患有无虹膜症和先天性白内障的基因缺陷。对F1家族的PAX6基因进行测序，在外显子6中检测到一个新的c.265C>T转换。在F2家族中，在四名受影响成员中检测到先前描述的PAX6基因c.718C>T突变。本研究为PAX6基因增加了新的突变，为患有无虹膜眼部畸形的个体的遗传和表型异质性提供了进一步的证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1664/4785518/47f40a983d76/hgv20148-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1664/4785518/47f40a983d76/hgv20148-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1664/4785518/47f40a983d76/hgv20148-f1.jpg

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