The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

Hailey R. Feldman, Stephen R. Dlouhy, Melissa D. Lah, Katelyn K. Payne, David D. Weaver

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Wiedemann–Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long-term prognosis is not well defined. Here we report on two further unrelated individuals diagnosed with Wiedemann–Steiner syndrome, one of whom is in her third decade of life. In addition, both individuals have novel KMT2A mutations. The information provided below about the outcome in Wiedemann–Steiner syndrome is important for families of affected individuals.

Original languageEnglish (US)
Pages (from-to)300-305
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number2
DOIs
StatePublished - Feb 1 2019

Keywords

  • KMT2A
  • Wiedemann–Steiner syndrome
  • hypertrichosis
  • hypertrichosis cubiti
  • lysine methyltransferase

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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