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).
All Science Journal Classification (ASJC) codes
- Genética (clínica)