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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

18 Citazioni (Scopus)

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. © 2016 Wiley Periodicals, Inc.
Lingua originaleEnglish
pagine (da-a)2389-2393
Numero di pagine5
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume170
DOI
Stato di pubblicazionePubblicato - 2016

Keywords

  • Genetics
  • Genetics (clinical)
  • KMT2A
  • Weidemann–Steiner syndrome
  • congenital immunodeficiency
  • exome sequencing

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