Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A

Emilia Stellacci, Roberta Onesimo, Alessandro Bruselles, Simone Pizzi, Domenica Battaglia, Chiara Leoni, Giuseppe Zampino, Marco Tartaglia

Research output: Contribution to journalArticle

Abstract

Wiedemann–Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. Since the original reports by Wiedemann and co-workers, and Steiner and Marques, only a few cases have been described. Recently, the clinical variability of the disorder has more precisely been characterized by Jones and co-workers, who also identified heterozygous KMT2A mutations as the molecular defect underlying this condition. Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding difficulties, microcephaly, and congenital immunodeficiency with low levels of immunoglobulins as additional features. Whole exome sequencing allowed identifying a previously unreported de novo KMT2A missense mutation affecting the DNA binding domain of the methyltransferase. This finding expands the clinical phenotype associated with KMT2A mutations to include immunodeficiency and epilepsy as clinically relevant features for this disorder.

Original languageEnglish
Pages (from-to)2389-2393
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number9
DOIs
Publication statusPublished - Sep 1 2016

Keywords

  • congenital immunodeficiency
  • exome sequencing
  • KMT2A
  • Weidemann–Steiner syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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