Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Am J Med Genet A. 2012 Jul;158A(7):1686-9. doi: 10.1002/ajmg.a.35371. Epub 2012 May 31.
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.
小头-淋巴水肿-脉络膜视网膜发育不良（MLCRD）综合征是一种罕见的综合征，于 1992 年首次描述。特征性颅面特征包括严重的小头畸形、上睑裂倾斜、突出的耳朵、宽鼻子和长人中，下巴呈尖形。最近，已经证明 KIF11 的突变导致显性遗传的 MLCRD 综合征。在此，我们介绍了一位 MLCRD 综合征患者，其父母是表亲。父母没有受到影响，因此该疾病的遗传模式可能为隐性遗传。然而，先证者携带 KIF11 外显子 2 中的一种新的、从头产生的无义突变。该患者还存在中线裂舌，以前在该综合征中未描述过。
