Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature
Year: 2014
Type: article
Study design: Case Report
Abstract: The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on de novo novel mutations of KIF11 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy, and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report, therefore, further expands the clinical and molecular spectrum of KIF11-associated microcephaly.
DOI: 10.1002/ajmg.a.36707
Institutions: University of Washington, Seattle Children's Research Institute, Duke University, Spectrum Health, Corewell Health Blodgett Hospital, Children's Hospital of Philadelphia, Stanford University, Cardinal Glennon Children’s Medical Center, Saint Louis University, University of Illinois Chicago
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2074824632