Members of this family are thought to be related to the ciliary basal body. Defects result in Meckel syndrome type 3, [MIM:607361], an autosomal recessive disorder characterised by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Joubert syndrome type 6 [MIM:610688] is also a manifestation of certain mutations; it is an autosomal recessive congenital malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioural disturbances [1][2]. [1]. 16415887. The transmembrane protein meckelin (MKS3) is mutated in. Meckel-Gruber syndrome and the wpk rat.. Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S,. Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA,. Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA,. Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P,. Algazali L,. Nat Genet. 2006;38:191-196.. [2]. 17160906. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert. syndrome.. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S,. Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S,. Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P,. Johnson CA, Vekemans M, Antignac C, Attie-Bitach T;. Am J Hu. TRUNCATED at 1650 bytes (from Pfam)
GO Terms:- Date:
- 2024-08-14