New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report

Julio C. Salas-Alanís, Claire A. Scott, Oscar R. Fajardo-Ramírez, Carola Duran, María G. Moreno-Treviño, David P. Kelsell

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5 Citations (Scopus)

Abstract

GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressiveoptic 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 observe d. This gene encodes a matrix-interacting protein thatworks as an adhesion molecule. In this report, we describe 2 homozygous siblings diagnosed with GAPO syndrome car-rying a new missense mutation. This mutation produces the substitution of a glutamine in position 137 for a leucine (c.410A>T, p.Q137L).

Original languageEnglish
Pages (from-to)160-163
Number of pages4
JournalMolecular Syndromology
Volume7
Issue number3
DOIs
Publication statusPublished - 1 Jul 2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Salas-Alanís, J. C., Scott, C. A., Fajardo-Ramírez, O. R., Duran, C., Moreno-Treviño, M. G., & Kelsell, D. P. (2016). New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report. Molecular Syndromology, 7(3), 160-163. https://doi.org/10.1159/000446619