< b > < i > FIG4 < /i > < /b > -Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant

We report a neonate born to a consanguineous couple with typical clinical manifestations of YVS. Using whole-exome sequencing, we identified a novel homozygous missense variant (c.968A#x3e;G; p.Gln323Arg) in theFIG4 gene. Thus, our study expands the molecular and genetic spectrum ofFIG4-associated mutations. To our knowledge, this is the first reported case of YVS from the Saudi population.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research