Format

Send to

Choose Destination
See comment in PubMed Commons below
Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Author information

1
Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, UK.
2
Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London, UK.
3
Moorfields Eye Hospital, London, UK.
4
Clinical Genetics Department, Guys and St Thomas' Hospital, London, UK.
5
Clinical Genetics Department, Birmingham Women's Hospital, Birmingham, UK.
6
Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield, UK.
7
Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London, UK.
8
Institute of Human Genetics, University of Bonn, Bonn, Germany.
9
Department of Medical Genetics, Dr Behçet Uz Children's Hospital, Izmir, Turkey.
10
Serviço de Genética Médica, Hospital Santa Maria, Lisbon, Portugal.
11
Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen, Essen, Germany.
12
Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France, Lille, France.
13
Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier, France.
14
Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA), Greenville, SC, USA.
15
South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
16
Department of Clinical Sciences, St George's University of London, London, UK.

Abstract

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (KIF11) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose de novo in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the KIF11 gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with KIF11 mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing.

PMID:
24281367
PMCID:
PMC3938398
DOI:
10.1038/ejhg.2013.263
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group Icon for PubMed Central
    Loading ...
    Support Center