Autosomal recessive non-syndromic keratoconus: Homozygous frameshift variant in the candidate novel gene GALNT14.

In this study, we used whole exome sequencing to identify the genetic cause of KC in two sibs in a consanguineous family. The Homozygous frameshift variant NM_001253826.1:c.60delC;p.Leu21Cysfs*6 was identified in the gene N-acetylgalactosaminyltransferase 14 (GALNT14). The variant does not exist in all public databases neither in our internal exome database. Moreover, no database harbours homozygous loss of function variants in the candidate gene. GALNT14 catalyses the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on target proteins especially Mucins. Because alterations of mucins glycosylation are linked to a number of eye diseases, we demonstrate in this study an association between the truncated protein GALNT14 and KC. PMID: 31362688 [PubMed - as supplied by publisher]
Source: Current Molecular Medicine - Category: Molecular Biology Authors: Tags: Curr Mol Med Source Type: research