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

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 caus...

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Autores principales: Ramirez-Montaño, Diana, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad del Valle 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536042/
https://www.ncbi.nlm.nih.gov/pubmed/31168168
http://dx.doi.org/10.25100/cm.v50i1.3555
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author Ramirez-Montaño, Diana
Pachajoa, Harry
author_facet Ramirez-Montaño, Diana
Pachajoa, Harry
author_sort Ramirez-Montaño, Diana
collection PubMed
description 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.
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spelling pubmed-65360422019-06-05 Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report Ramirez-Montaño, Diana Pachajoa, Harry Colomb Med (Cali) Case Report 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. Universidad del Valle 2019-03-30 /pmc/articles/PMC6536042/ /pubmed/31168168 http://dx.doi.org/10.25100/cm.v50i1.3555 Text en Copyright © 2019 Universidad del Valle This article is distributed under the terms of the Creative Commons Attribution License http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Case Report
Ramirez-Montaño, Diana
Pachajoa, Harry
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
title Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
title_full Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
title_fullStr Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
title_full_unstemmed Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
title_short Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
title_sort wiedemann-steiner syndrome with a novel pathogenic variant in kmt2a: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536042/
https://www.ncbi.nlm.nih.gov/pubmed/31168168
http://dx.doi.org/10.25100/cm.v50i1.3555
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