Mowat-Wilson syndrome affecting 3 siblings

J Child Neurol. 2008 Mar;23(3):274-8. doi: 10.1177/0883073807309231. Epub 2008 Jan 29.

Abstract

We herein report 3 cases of Mowat-Wilson syndrome, characterized by distinct facial features, severe psychomotor retardation, and epilepsy, recurring in 3 siblings from the same parents. The proband was a 15-month-old boy, the youngest of 3 children (2 elder sisters), who was referred to our hospital for the treatment of severe seizures. The clinical features and course of these 3 siblings were compatible with those of previously reported Mowat-Wilson syndrome patients, and all siblings had the same E87X nonsense mutation in ZFHX1B, whereas their mother did not show the mutation. Because Mowat-Wilson syndrome has been caused by de novo mutation in ZFHX1B, germ-line mosaicism should be considered if recurrence in siblings is observed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Child
  • Child, Preschool
  • Codon, Nonsense / genetics
  • Craniofacial Abnormalities / complications
  • Craniofacial Abnormalities / genetics*
  • Epilepsy / complications
  • Epilepsy / genetics*
  • Facies*
  • Female
  • Germ-Line Mutation / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Mosaicism
  • Pedigree
  • Repressor Proteins / genetics*
  • Siblings*
  • Syndrome
  • Zinc Finger E-box Binding Homeobox 2

Substances

  • Codon, Nonsense
  • Homeodomain Proteins
  • Repressor Proteins
  • ZEB2 protein, human
  • Zinc Finger E-box Binding Homeobox 2