New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
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Volume
7
Pagination
160 - 163
DOI
10.1159/000446619
Journal
Mol Syndromol
Issue
ISSN
1661-8769
Metadata
Show full item recordAbstract
GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy (GAPO). To date, only 30 cases have been described worldwide. Recently, gene alterations in the ANTXR1 gene have been reported to be causative of this disorder, and an autosomal recessive pattern has been observed. This gene encodes a matrix-interacting protein that works as an adhesion molecule. In this report, we describe 2 homozygous siblings diagnosed with GAPO syndrome carrying a new missense mutation. This mutation produces the substitution of a glutamine in position 137 for a leucine (c.410A>T, p.Q137L).