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Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation
Author(s) -
McGaughran Julie,
Sinnott Stephen,
Moal Florence DastotLe,
Wilson Meredith,
Mowat David,
Sutton Bridget,
Goossens Michel
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30896
Subject(s) - microcephaly , germline mosaicism , agenesis of the corpus callosum , congenital disorder , mutation , exon , sibling , genetics , medicine , corpus callosum , biology , pathology , gene , psychology , developmental psychology
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. © 2005 Wiley‐Liss, Inc.