Homozygous null mutation in ODZ3 causes microphthalmia in humans

被引：54

作者：

Aldahmesh, Mohammed A. ^{[1
]}

Mohammed, Jawahir Y. ^{[1
]}

Al-Hazzaa, Selwa ^{[2
]}

Alkuraya, Fowzan S. ^{[1
,3
,4
,5
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Surg, Riyadh 11211, Saudi Arabia

[3] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

[4] King Saud Univ, Dept Pediat, King Khalid Univ Hosp, Riyadh, Saudi Arabia

[5] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia

来源：

GENETICS IN MEDICINE | 2012年 / 14卷 / 11期

关键词：

autozygosity mapping; colobomatous microphthalmia; TEN-M3; Teneurin-3; PAIR-RULE GENE; VERTEBRATE EYE DEVELOPMENT; HOMEOBOX GENE; DROSOPHILA; ANOPHTHALMIA; FAMILY;

D O I：

10.1038/gim.2012.71

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Microphthalmia is a condition in which eyes are small in size, often associated with coloboma, as a result of aberrant eye development. Isolated microphthalmia is a model disease for studying early development of the human eye, and mutations in several key genes related to eye development have been linked to this phenotype. Methods: In our search for novel genes that cause autosomal recessive microphthalmia when mutated, we enrolled a family that consists of third-cousin parents and two children with isolated colobomatous microphthalmia. Results: Exome and autozygome analysis identified a null mutation in ODZ3, one of four vertebrate orthologs of odz in Drosophila. Conclusion: Our data highlight a role for ODZ3 in the early development of the human eye.

引用

页码：900 / 904

页数：5

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