An 8.9 year old girl with autism and Gorlin syndrome

Hanne Delbroek; Jean Steyaert; Eric Legius

doi:10.1016/j.ejpn.2010.12.001

An 8.9 year old girl with autism and Gorlin syndrome

Eur J Paediatr Neurol. 2011 May;15(3):268-70. doi: 10.1016/j.ejpn.2010.12.001. Epub 2010 Dec 28.

Authors

Hanne Delbroek¹, Jean Steyaert, Eric Legius

Affiliation

¹ Department of Child and Adolescent Psychiatry, Catholic University of Leuven, Leuven, Belgium.

PMID: 21190878
DOI: 10.1016/j.ejpn.2010.12.001

Abstract

We present an 8.9 year old girl diagnosed with autism and macrocrania. Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene. The possibility of an association between autism and Gorlin syndrome is discussed.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Autistic Disorder / diagnosis
Autistic Disorder / genetics*
Basal Cell Nevus Syndrome / diagnosis
Basal Cell Nevus Syndrome / genetics*
Child
Codon, Nonsense / genetics
Female
Frameshift Mutation / genetics
Gene Deletion*
Genetic Predisposition to Disease / genetics
Humans
Patched Receptors
Patched-1 Receptor
Receptors, Cell Surface / deficiency
Receptors, Cell Surface / genetics

Substances

Codon, Nonsense
PTCH1 protein, human
Patched Receptors
Patched-1 Receptor
Receptors, Cell Surface