Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.

ABSTRACT:

Case description

We report the case of a one-year-old girl who was diagnosed with Wiedemann-Steiner Syndrome based on the identification of a novel de novo frameshift mutation in the KMT2A gene by whole exome sequencing and supported by her clinical features.

Clinical findings

KMT2A mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital hypertrichosis, short stature, intellectual disability, and distinct facial features.

Treatment and outcome

Whole exome sequencing identified a novel frameshift variant: c. 4177dupA (p.Ile1393Asnfs * 14) in KMT2A; this change generates an alteration of the specific binding to non-methylated CpG motifs of the DNA to the protein. The genotype and phenotype of the p

SUBMITTER: Ramirez-Montano D 

PROVIDER: S-EPMC6536042 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature