PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

被引：185

作者：

Sisodiya, SM

Free, SL

Williamson, KA

Mitchell, TN

Willis, C

Stevens, JM

Kendall, BE

Shorvon, SD

Hanson, IM

Moore, AT

van Heyningen, V

机构：

[1] UCL, Inst Neurol, Dept Clin Neurol, Epilepsy Res Grp, London WC1N 3BG, England

[2] Natl Soc Epilepsy, Gerrards Cross SL9 0RJ, Bucks, England

[3] Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[4] Moorfields Eye Hosp, London EC1V 2PD, England

[5] Addenbrookes Hosp, Cambridge CB2 2QQ, England

来源：

NATURE GENETICS | 2001年 / 28卷 / 03期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/90042

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye(1). Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.

引用

页码：214 / 216

页数：3

共 14 条

[1] FIBER COMPOSITION OF THE HUMAN CORPUS-CALLOSUM [J].