Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation

Christian Gund, Zöe Powis, Wendy Alcaraz, Sonal Desai, Kristin Baranano

Research output: Contribution to journalArticlepeer-review

Abstract

We evaluated a 13-year-old East Pakistani male affected with microcephaly, apparent intellectual disability, hypotonia, and brisk reflexes without spasticity. His parents were first cousins. The patient also had a brother who was similarly affected and died at 10 years due to an accident. Previous SNP array testing showed a 1.63 Mb duplication at 16p13.11 of uncertain significance along with regions of homozygosity. Exome sequencing identified a known pathogenic homozygous alteration in DEAF1, c.676C>T (p.R226W), in this patient. The alteration had been reported in two individuals from a consanguineous Saudi Arabian family. Both individuals had microcephaly, intellectual disability, hypotonia, feeding difficulties, and poor growth. The patient reported here did not have evidence of white matter disease, as had been reported with prior patients. We conclude that this DEAF1 gene alteration caused this patient's symptoms and that white matter disease should not be considered a obligate feature of this syndrome.

Original languageEnglish (US)
Pages (from-to)1330-1332
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number5
DOIs
StatePublished - May 1 2016
Externally publishedYes

Keywords

  • Clinical diagnostic sequencing
  • Consanguinity
  • DEAF1 protein
  • Exome
  • Human
  • Intellectual disability
  • Microcephaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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