title: Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.
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.
authors.affiliation: Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland, Australia. Julie_McGaughran@health.qld.gov.au
authors.forename: Julie
authors.initials: J
authors.lastname: McGaughran
authors.forename: Stephen
authors.initials: S
authors.lastname: Sinnott
authors.forename: Florence
authors.initials: F
authors.lastname: Dastot-Le Moal
authors.forename: Meredith
authors.initials: M
authors.lastname: Wilson
authors.forename: David
authors.initials: D
authors.lastname: Mowat
authors.forename: Bridget
authors.initials: B
authors.lastname: Sutton
authors.forename: Michel
authors.initials: M
authors.lastname: Goossens
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006627:Hirschsprung Disease / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics*; D035781:Siblings; D013577:Syndrome; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2