Pax6 3 ' deletion results in aniridia, autism and mental retardation

L K Davis; K J Meyer; D. S. Rudd; A. L. Librant; E. A. Epping; V. C. Sheffield; T. H. Wassink

doi:10.1007/s00439-008-0484-x

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Pax6 3 ' deletion results in aniridia, autism and mental retardation

Journal article

Peer reviewed

Pax6 3 ' deletion results in aniridia, autism and mental retardation

L K Davis, K J Meyer, D. S. Rudd, A. L. Librant, E. A. Epping, V. C. Sheffield and T. H. Wassink

Human genetics, Vol.123(4), pp.371-378

05/01/2008

DOI: 10.1007/s00439-008-0484-x

PMCID: PMC2719768

PMID: 18322702

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https://www.ncbi.nlm.nih.gov/pmc/articles/2719768View

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Abstract

The PAX6 gene is a transcription factor expressed early in development, predominantly in the eye, brain and gut. It is well known that mutations in PAX6 may result in aniridia, Peter's anomaly and kertatisis. Here, we present mutation analysis of a patient with aniridia, autism and mental retardation. We identified and characterized a 1.3 Mb deletion that disrupts PAX6 transcriptional activity and deletes additional genes expressed in the brain. Our findings provide continued evidence for the role of PAX6 in neural phenotypes associated with aniridia.

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

Details

Title: Subtitle: Pax6 3 ' deletion results in aniridia, autism and mental retardation
Creators: L K Davis - University of Iowa
K J Meyer - University of Iowa
D. S. Rudd - Roy J. and Lucille A. Carver College of Medicine
A. L. Librant - Roy J. and Lucille A. Carver College of Medicine
E. A. Epping - Roy J. and Lucille A. Carver College of Medicine
V. C. Sheffield - University of Iowa
T. H. Wassink - University of Iowa
Resource Type: Journal article
Publication Details: Human genetics, Vol.123(4), pp.371-378
DOI: 10.1007/s00439-008-0484-x
PMID: 18322702
PMCID: PMC2719768
NLM abbreviation: Hum Genet
ISSN: 0340-6717
eISSN: 1432-1203
Publisher: Springer Nature
Number of pages: 8
Grant note: AS1489 / Autism Speaks T32GM008629 / NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of General Medical Sciences (NIGMS) 2T32GM008629; T32 GM008629; T32 GM008629-11 / NIGMS NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of General Medical Sciences (NIGMS)
Language: English
Date published: 05/01/2008
Academic Unit: Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Chemistry; Ophthalmology and Visual Sciences
Record Identifier: 9984281756502771

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