Nature Genetics 38, 155 - 157 (2006)
Published online: 15 January 2006; | doi:10.1038/ng1714
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndromeMira Kyttälä1, 2, Jonna Tallila1, Riitta Salonen3, Outi Kopra1, 4, Nicolai Kohlschmidt5, Paulina Paavola-Sakki6, Leena Peltonen1, 2, 7
& Marjo Kestilä11
Department of Molecular Medicine, National Public Health Institute, FI-00251 Helsinki, Finland. 2
Department of Medical Genetics, University of Helsinki, FI-00014 Helsinki, Finland. 3
Department of Medical Genetics, Väestöliitto, FI-00101 Helsinki, Finland. 4
Neuroscience Center, University of Helsinki, FI-00014 Helsinki, Finland. 5
Institute of Human Genetics, University Hospital, Mainz, D-55101, Germany. 6
Department of Medicine, Helsinki University Hospital, FI-00029 Helsinki, Finland. 7
The Broad Institute of Harvard and the Massachusetts Institute of Technology, Boston, Massachusetts 02139, USA.
Correspondence should be addressed to Leena Peltonen leena.peltonen@ktl.fi Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele, cystic kidney dysplasia, fibrotic changes of the liver and polydactyly. Here we report the identification of a gene, MKS1, mutated in MKS families linked to 17q. Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS. Comparative genomics and proteomics data implicate MKS1 in ciliary functions.
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