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A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family
Author(s) -
Hazan Filiz,
Ostergaard Pia,
Ozturk Taylan,
Kantekin Esin,
Atlihan Fusun,
Jeffery Steve,
Ozkinay Ferda
Publication year - 2012
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.35371
Subject(s) - microcephaly , medicine , craniofacial , dermatology , lymphedema , ectodermal dysplasia , congenital disorder , pediatrics , genetics , surgery , biology , cancer , psychiatry , breast cancer
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11 . The patient also had midline cleft tongue which has not previously been described in this syndrome. © 2012 Wiley Periodicals, Inc.