New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
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SUBMITTER: Salas-Alanis JC
PROVIDER: S-EPMC4988245 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
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New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
Salas-Alanís Julio C JC Scott Claire A CA Fajardo-Ramírez Oscar R OR Duran Carola C Moreno-Treviño María G MG Kelsell David P DP
Molecular syndromology 20160602 3
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 wit ...[more]
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