The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

Article Abstract:

The identification of Meckle-Gruber syndrome (MKS3) gene mutations in four patients with Joubert syndrome (JS), which defines the MKS3 gene as the sixth locus for JS (JBTS6), is reported. The identification of such MKS3 mutations in patients with JS reveal that JS and MKS are allelic disorders and that other and still-unknown molecular defects could be responsible for the variable phenotypic expression of MKS3 mutations.

Allelomorphism, Alleles, Encephalocele, Joubert syndrome

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CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

Article Abstract:

The significance of the presence of CABC1 genes for the functioning of the ubiquinone biosynthesis pathway is discussed. The CABC1 gene mutations are found to lead to severe changes in the protein function, hence leading to the ubiquinone deficiency with cerebellar ataxia and seizures.

Health aspects, Analysis, Cerebellar ataxia, Causes of, Enzymes, Phosphorylation, Enzyme synthesis, Ubiquinones

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Matthew-Wood syndrome is caused by truncating mutations in the retinol binding protein receptor gene STRA6

Article Abstract:

Molecular analysis of STRA6 was carried out in two human fetuses from consanguineous families with Mathew-Wood syndrome. The findings indicate that there is a molecular basis for the prenatal manifestations of Matthew-Wood syndrome.

Genetic aspects, Vitamin A, Tretinoin, Microphthalmos

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