New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report
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,...
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| Veröffentlicht in: | Molecular syndromology 2016-07, Vol.7 (3), p.160-163 |
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| container_title | Molecular syndromology |
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| creator | Salas-Alanís, Julio C. Scott, Claire A. Fajardo-Ramírez, Oscar R. Duran, Carola Moreno-Treviño, María G. Kelsell, David P. |
| description | 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). |
| doi_str_mv | 10.1159/000446619 |
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| source | Karger Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Novel Insights from Clinical Practice |
| title | New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report |
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