title: New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
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).
authors: Departamento de Ciencias Básicas, Universidad de Monterrey, Aguascalientes, Mexico.
authors: Julio C
authors: JC
authors: Salas-Alanís
authors: Centre for Cell Biology and Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors: Claire A
authors: CA
authors: Scott
authors: Departamento de Ciencias Básicas, Universidad de Monterrey, Aguascalientes, Mexico.
authors: Oscar R
authors: OR
authors: Fajardo-Ramírez
authors: Departamento de Dermatología, Instituto Nacional de Pediatría, Coyoacán, Mexico.
authors: Carola
authors: C
authors: Duran
authors: Departamento de Ciencias Básicas, Universidad de Monterrey, Aguascalientes, Mexico.
authors: María G
authors: MG
authors: Moreno-Treviño
authors: Centre for Cell Biology and Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors: David P
authors: DP
authors: Kelsell
keywords: ANTXR1 mutation; Alopecia; Growth retardation; Optic atrophy; Pseudoanodontia