Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.

Abstract

In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. A mutation (Ala397Asp) segregating with the disease was identified, and several polymorphisms were also detected. It is presumed that the other USHIB mutations in these families could be located in the unscreened regions of the gene.

• Authors: C Espinós, J M Millán, F Sánchez, M Beneyto, C Nájera
• Journal: Human genetics (Hum Genet) Vol. 102 Issue 6 Pg. 691-4 (Jun 1998) ISSN: 0340-6717 [Print] Germany
• PMID: 9703432 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• MYO7A protein, human
• Myosin VIIa
• Myosins
• Dyneins

Topics

• Adult
• Dyneins
• Female
• Hearing Loss, Sensorineural (genetics)
• Humans
• Male
• Myosin VIIa
• Myosins (genetics)
• Pedigree
• Point Mutation
• Polymorphism, Genetic
• Polymorphism, Single-Stranded Conformational
• Retinitis Pigmentosa (genetics)
• Syndrome