MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome by Kyttälä Mira, Tallila Jonna, Salonen Riitta, Kopra Outi, Kohlschmidt Nicolai, Paavola-Sakki Paulina, Peltonen Leena, Kestilä Marjo in Nature genetics (2006).

[PMID: 16415886] PubMed


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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