No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Summary, in English

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5.

• Author: Matthieu J Schlögel; Antonella Mendola; Elodie Fastré; Pradeep Vasudevan; Koen Devriendt; Thomy Jl de Ravel; Hilde Van Esch; Ingele Casteels; Ignacio Arroyo Carrera; Francesca Cristofoli; Karen Fieggen; Katheryn Jones; Mark Lipson; Irina Balikova; Ami Singer; Maria Soller; María Mercedes Villanueva; Nicole Revencu; Laurence M Boon; Pascal Brouillard; Miikka Vikkula
• Department/s: Division of Clinical Genetics
• Publishing year: 2015
• Language: English
• Publication/Series: Orphanet Journal of Rare Diseases
• Volume: 10
• Issue: 1
• Full text: - 2 MB; Download statistics
• Links: http://www.ncbi.nlm.nih.gov/pubmed/25934493?dopt=Abstract; http://dx.doi.org/10.1186/s13023-015-0271-4
• Document type: Journal article
• Publisher: BioMed Central (BMC)
• Topic: Medical Genetics
• Status: Published
• ISBN/ISSN/Other: ISSN: 1750-1172