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, 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.
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey. filizhazan@hotmail.com
Filiz
F
Hazan
Pia
P
Ostergaard
Taylan
T
Ozturk
Esin
E
Kantekin
Fusun
F
Atlihan
Steve
S
Jeffery
Ferda
F
Ozkinay
D001483:Base Sequence; D018389:Codon, Nonsense; D003241:Consanguinity; D005091:Exons; D019066:Facies; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016547:Kinesins / Q000235:genetics*; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015792:Retinal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey
D018389:Codon, Nonsense; C470243:KIF11 protein, human; D016547:Kinesins