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

作者：Hazan Filiz^*; Ostergaard Pia; Ozturk Taylan; Kantekin Esin; Atlihan Fusun; Jeffery Steve; Ozkinay Ferda

来源：American Journal of Medical Genetics, Part A, 2012, 158A(7): 1686-1689.

DOI：10.1002/ajmg.a.35371

• microcephaly lymphedema chorioretinal dysplasia syndrome
• KIF11
• novel mutation
• midline cleft tongue

Microcephalylymphedemachorioretinal 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.

• 出版日期2012-7