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Colombia Médica
On-line version ISSN 1657-9534
Abstract
RAMIREZ-MONTANO, Diana and PACHAJOA, Harry. Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. Colomb. Med. [online]. 2019, vol.50, n.1, pp.40-45. ISSN 1657-9534. https://doi.org/10.25100/cm.v50i1.3555.
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 patient were compared with those of earlier reported patients in the literature.
Clinical Relevance:
In diseases with low frequency, it is necessary to establish a genotype-phenotype correlation that allows the establishment of therapeutic and follow-up goals. The phenotype comparation with other reported cases did not show differences attributable to sex or age among patients with Wiedemann-Steiner Syndrome. Whole exome sequencing allows identifying causality in conditions with high clinical and genetic heterogeneity like hypertrichosis.
Keywords : Frameshift mutation; histone methyltransferases; hypertrichosis; intellectual disability; whole exome sequencing.