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

Resultado de la investigación

5 Citas (Scopus)

Resumen

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).

Idioma originalEnglish
Páginas (desde-hasta)160-163
Número de páginas4
PublicaciónMolecular Syndromology
Volumen7
N.º3
DOI
EstadoPublished - 1 jul 2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Huella Profundice en los temas de investigación de 'New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report'. En conjunto forman una huella única.

  • Citar esto

    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