Meckel syndrome type 3

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Meckel syndrome type 3

An autosomal recessive disorder (OMIM:607361) characterised by renal cysts and variably associated features, including developmental anomalies of the CNS (typically encephalocele, hepatic duct dysplasia and cysts) and polydactyly.

Molecular pathology
Caused by defects TMEM67, which encodes meckelin, a key ciliary protein.
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 gene, MKS3, is mutated in Joubert syndrome.
When it is not defective, the newly-identified gene - called MKS3 - plays an important role in the development of these organs.