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

Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland, Australia.
American Journal of Medical Genetics Part A (Impact Factor: 2.05). 09/2005; 137A(3):302-4. DOI: 10.1002/ajmg.a.30896
Source: PubMed

ABSTRACT 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.


Available from: Julie Mcgaughran, Sep 22, 2014