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PMID: 11431688 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

Nature genetics ·Vol. 28 ·No. 3 ·2001-07-00 ·Pages 214-6

Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V

Abstract

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. 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.

MeSH Terms
Adult Aniridia/genetics Eye Proteins Female Homeodomain Proteins/genetics Humans Magnetic Resonance Imaging Male Middle Aged Nervous System Malformations/genetics Olfaction Disorders/genetics PAX6 Transcription Factor Paired Box Transcription Factors Repressor Proteins Telencephalon/abnormalities
Chemicals
Eye Proteins Homeodomain Proteins PAX6 Transcription Factor PAX6 protein, human Paired Box Transcription Factors Repressor Proteins
Authors & Affiliations
11 authors, click to expand affiliations / ORCID
Sisodiya S M
Epilepsy Research Group, University Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. sisodiya@ion.ucl.ac.uk
Free S L
Williamson K A
Mitchell T N
Willis C
Stevens J M
Kendall B E
Shorvon S D
Hanson I M
Moore A T
van Heyningen V
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
DOI
10.1038/90042
Email
sisodiya@ion.ucl.ac.uk
Published
2001-07-00
Pages
214-6
Language
English
Region
United States
NLM ID
9216904
Subset
IM
Grants
Medical Research Council · MC_U127527199 · United Kingdom
External Links
PubMed source DOI: 10.1038/90042 View journal details
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