PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

Authors
Sisodiya, SM Free, SL Williamson, KA Mitchell, TN Willis, C Stevens, JM Kendall, BE Shorvon, SD Hanson, IM Moore, AT van Heyningen, V
Citation
Sm. Sisodiya et al., PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans, NAT GENET, 28(3), 2001, pp. 214-216
Citations number
14
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
28
Issue
3
Year of publication
2001
Pages
214 - 216
Database
ISI
SICI code
1061-4036(200107)28:3<214:PHCCMA>2.0.ZU;2-M
Abstract
PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 m utations in human aniridia cause defects that would seem to be confined to the eye(1). Magnetic resonance imaging (MRI) and smell testing reveal the a bsence 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.