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Am J Med Genet A. 2012 Jul;158A(7):1686-9. doi: 10.1002/ajmg.a.35371. Epub 2012 May 31.

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Author information

1
Department of Medical Genetics, Dr. Beh├žet Uz Children's Hospital, Izmir, Turkey. filizhazan@hotmail.com

Abstract

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.

PMID:
22653704
DOI:
10.1002/ajmg.a.35371
[Indexed for MEDLINE]
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