Genes, Vol. 15, Pages 211: Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Genes, Vol. 15, Pages 211: Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome Genes doi: 10.3390/genes15020211 Authors: Henrique Garcia Silveira Carlos Eduardo Steiner Giovana Toccoli Luise Longo Angeloni Júlia Lôndero Heleno Samira Spineli-Silva Ana Mondadori dos Santos Társis Paiva Vieira Maria Isabel Melaragno Vera Lúcia Gil-da-Silva-Lopes 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–Steiner syndrome, such as neurodevelopmental disorders and dysmorphic facial features (n = 3), hyperactivity and anxiety (n = 2), thick eyebrows and lower-limb hypertrichosis (n = 2), congenital heart disease (n = 1), short stature (n = 1), and velophary...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research