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Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.

作者信息

Mears Katrina, Bakall Benjamin, Harney Lisa A, Penticoff Jessica A, Stone Edwin M

机构信息

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City3Howard Hughes Medical Institute, University of Iowa, Iowa City.

出版信息

JAMA Ophthalmol. 2015 Jun;133(6):720-1. doi: 10.1001/jamaophthalmol.2015.199.

DOI:10.1001/jamaophthalmol.2015.199
PMID:25764055
Abstract
摘要

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Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.由于KIF11基因的新突变导致的常染色体显性小头畸形伴先天性淋巴水肿和脉络膜视网膜病变。
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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.家族性渗出性玻璃体视网膜病变和微小头畸形、淋巴水肿及脉络膜视网膜发育不良与 KIF11 突变相关的表型重叠。
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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.KIF11 基因突变导致常染色体显性小头畸形，可伴有先天性淋巴水肿和脉络膜视网膜病变。
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