… (lysine methyltransferase 2A, also known as the MLL gene) (NM_001197104.2), which was
… 2a,b). The patient’s parents did not have this variant and it indicated a de novo variant. This …

… with KMT2A mutations and reported a de novo mutation in … To find the candidate reason
for these atypical characteristics, … 2), which may cause malformation and dysfunction of the …

… mutation in the KMT2A gene c.7009C>T, and neither parent had the mutation, which was a
de novo mutation… on in this study presented with relatively atypical facial features. He just had …

… Mb deletion, but atypical deletions might also be found [1,2,3]. … Wiedemann–Steiner syndrome
[21]. After the discovery of … Still, recently, a de novo mutation in the ADAMTS8 gene was …

… De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome
in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet. 2014;…

… are associated to Wiedemann–Steiner syndrome and also in … heterozygous de novo missense
mutation in the KMT2A gene … demonstrated that the atypical antipsychotic clozapine can …

… Because WSS is typically caused by a de novo pathogenic variant, … (2) Identification of a
heterozygous KMT2A variant of … teeth & emergence of secondary teeth at atypical earlier age …

… , using Sanger sequencing, a novel de novo variant (c.10663G > A, p.Gly3555Ser) in the
KMT2A gene that is associated with autosomal-dominant Wiedemann–Steiner Syndrome. The …

… two-base pair deletion in exon 22 of the KMT2A gene, … –phenotype correlation for KMT2A
mutations. They reported a … a de novo missense mutation c.3481T >G (p. Cys1161Gly). …

… For example, mutations in KMT2A, which encode a DNA-… (H3K4), cause the
Wiedemann–Steiner syndrome (WSS; OMIM … variants in Proband 5 (maternal), all variants were de …