Meckel syndrome type 1

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Meckel syndrome type 1

An autosomal recessive disorder (OMIM:249000) characterised by renal cysts and variably associated features, including developmental anomalies of the CNS (e.g., encephalocele, hepatic duct dysplasia and cysts) and polydactyly.

Molecular pathology
Caused by defects of MKS1, which encodes a protein that localises to the basal body and is required for forming the primary cilia in ciliated epithelial cells.
References in periodicals archive ?
MKS1 mapped on Ch17q21-q24 [Finnish population] and MKS3 [Pakistan and Oman] on Ch8q24 are the important ones.
The meckel-gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
1 110 kDa MKS 1 MKS1 FABB proteome-like 17q22 protein BBS 1 BBS1 BBS2-like protein 2 11q13 65.