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

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, muta...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2012-07, Vol.158A (7), p.1686-1689
Main Authors: Hazan, Filiz, Ostergaard, Pia, Ozturk, Taylan, Kantekin, Esin, Atlihan, Fusun, Jeffery, Steve, Ozkinay, Ferda
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Blood and lymphatic vessels
Cardiology. Vascular system
Codon, Nonsense
Consanguinity
Diseases of the lymphatic vessels
Exons
Facies
Heterozygote
Humans
Infant
Infant, Newborn
KIF11
Kinesins - genetics
Lymphedema - diagnosis
Lymphedema - genetics
Male
Malformations of the nervous system
Medical genetics
Medical sciences
Microcephaly - diagnosis
Microcephaly - genetics
microcephaly lymphedema chorioretinal dysplasia syndrome
midline cleft tongue
Mutation
Neurology
novel mutation
Phenotype
Retinal Dysplasia - diagnosis
Retinal Dysplasia - genetics
Turkey
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Description
Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35371