Mutations in the myosin VIIA gene cause a wide phenotypic spectrum , including atypical Usher syndrome

Article Abstract:

Atypical Usher syndrome can be associated with mutations in the myosin gene MYO7A. Seven families with atypical Usher syndrome phenotypes were investigated for mutations in MYO7A. The results indicate that severity of Usher syndrome may be genetically determined. Usher syndrome is genetically heterogeneous. Atypical Usher syndrome is similar to the third clinical form of Usher syndrome, characterized by progressive hearing loss, retinitis pigmentosa and variable vestibular problems, but they are associated with mutations at different loci. In addition, mutations at MYO7A can be associated with either Usher syndrome type 1 or atypical Usher syndrome.

Myosin, Usher's syndrome

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Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls

Article Abstract:

A germ-line mutation affecting a DNA mismatch-repair gene may be carried by many young colon cancer patients. Cloning and sequencing of hMSH2 and hMLH1 introns were performed, followed by a complete systematic analysis of the hMSH2 and hMLH1 genes in 50 young patients with colorectal cancer and in controls. Thirty-seven variants were found, of which 15 seem to be pathogenic. The cancer patients were less than 30 years old when diagnosed.

Colorectal cancer, DNA repair

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Segregation of a PRKCG mutation in two RP11 families

Article Abstract:

Two families and two isolated individuals with retinitis pigmentosa (RP) were found to have a point mutation in the PRKCG gene that segregates with RP. The mutation was not found in three other families with linkage to RP11. The mutation was also not present in 500 normal control chromosomes. A close genetic association exists between the two families' RP11 phenotype and a mutation in ARg59Ser.

Protein kinases, Retinitis pigmentosa

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