New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
Mol Syndromol
; 7(3): 160-3, 2016 Jul.
Article
in En
| MEDLINE
| ID: mdl-27587992
ABSTRACT
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).
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Mol Syndromol
Year:
2016
Document type:
Article
Affiliation country:
Mexico