Article
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.
Scientific reports - 11 Apr 2017
Ferre-Fernández Jesús-José, Aroca-Aguilar José-Daniel, Medina-Trillo Cristina, Bonet-Fernández Juan-Manuel, Méndez-Hernández Carmen-Dora, Morales-Fernández Laura, Corton Marta, Cabañero-Valera María-José, Gut Marta, Tonda Raul, Ayuso Carmen, Coca-Prados Miguel, García-Feijoo Julián, Escribano Julio
Abstract excerpt
Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients. In one patient we identified two rare, recessive and hypermorphic coding variants in GPATCH3, a gene of unidentified function, and 5% of a second group of 170...
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