Preliminary identification of pathogenic variants in an Afro-Colombian Raizal family with risk factors for glaucoma.

ABSTRACT:

Objective

To identify pathogenic variants in an Afro-Colombian Raizal family with risk factors for glaucoma.

Methods

In the present study, whole exome sequencing was performed on seven members of a Raizal family from the archipelago of San Andrés, Providencia, and Santa Catalina, in the Caribbean region of Colombia. Four of them had been diagnosed with glaucoma. In addition, two healthy volunteers from the island were included.

Results

Of the 198 single nucleotide variants associated with glaucoma, previously reported by the DisGeNET database, four were identified in members of the Raizal family: rs11938093, rs7336216, rs3817672, and rs983034. Furthermore, single nucleotide variant rs983034 was identified in the Wnt ligand secretion mediator gene in all members

SUBMITTER: Castillo-Plata H 

PROVIDER: S-EPMC9651171 | biostudies-literature | 2022 Apr-Jun

REPOSITORIES: biostudies-literature