… and identified heterozygous de novo truncating pathogenic variants in the MLL gene … De
Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two …

… de novo. Interestingly, some of the patients were initially diagnosed with atypical Kabuki
syndrome, which is caused by … to be de novo, while parental samples for the other two were …

… (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 …

… variant and of the missense variants located at two … KMT2A gene within a large cohort of
patients with undiagnosed ID. We identified four novel de novo variants, three missense variants …

… with Wiedemann-Steiner Syndrome based on the identification of a novel de novo frameshift
mutation in the KMT2A gene … Tabla 2 Resumen de las mutaciones en KMT2A reportadas en …

… , we present 2 cases with Wiedemann-Steiner syndrome who harbor novel heterozygous
KMT2A … Each of our 2 patients had a novel and de novo mutation, c.5932C>T (p.Gln1978*) in …

… statistical model of de novo mutation rate for KMT2A. Our … are associated with
Wiedemann−Steiner Syndrome (WSS). … It was suspected that these episodes may be due to …

… 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 …

… Two de novo variants were identified in the patient and were not … diagnosed for an atypical
form of Kabuki syndrome, which … in MLL/KMT2A, and we propose 2 candidate variants for DSD…