Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.

ABSTRACT: The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil's Craniofacial Project. Of the 2568 patients listed in the Brazilian Database on Craniofacial Anomalies, 43 individuals negative for the 22q11.2 deletion syndrome were further investigated through whole-exome sequencing. Three patients (6.7%) presented with heterozygous pathogenic variants in the KMT2A gene, including a novel variant (c.6158+1del) and two that had been previously reported (c.173dup and c.3241C>T); reverse phenotyping concluded that all three patients presented features of Wiedemann-St

SUBMITTER: Silveira HG 

PROVIDER: S-EPMC10888166 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature