Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation

Am J Med Genet A. 2005 Sep 1;137A(3):302-4. doi: 10.1002/ajmg.a.30896.


Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease. Heterozygous mutations or deletions involving the gene ZFHX1B (previously SIP1) [OMIM 605802] have recently been found to cause MWS. There have previously been no reports of a sibling recurrence of this syndrome. A brother and sister are described with clinical features of MWS, where both have the same truncating mutation in exon 8 of ZFHX1B. As their parents are phenotypically normal and do not have the mutation in lymphocyte-derived DNA, the most likely explanation is germ-line mosaicism.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Agenesis of Corpus Callosum
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Hirschsprung Disease / pathology
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / pathology*
  • Male
  • Microcephaly / pathology*
  • Mutation*
  • Repressor Proteins / genetics*
  • Siblings
  • Syndrome
  • Zinc Finger E-box Binding Homeobox 2


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

Associated data

  • OMIM/605802