Two Finnish USH1B patients with three novel mutations inmyosin VIIA

[摘要] Purpose: Usher syndrome (USH) is an autosomal recessive disorderresulting in retinal degeneration and sensorineural deafness caused bymutations in at least 10 gene loci. USH is divided into three mainclinical types: USH1 (33-44%), USH2 (56-67%), and USH3. Worldwide, USH1and USH2 account for most of the Usher syndrome cases with rareoccurrence of USH3. In Finland, however, USH3 is the most common type(40%), explained by genetic and geographical isolation accompanied witha founder mutation, while USH1 is estimated to comprise 34% and USH2 12%of all USH cases.Methods: We examined two unrelated Finnish USH1 patients bysequencing.Results: We found three new myosin VIIA (MYO7A) mutations:p.K923AfsX8, p.Q1896X, and p.E1349K. The p.K923AfsX8 mutation waspresent in both patients as well as in one of 200 Finnish controlchromosomes.Conclusions: This is the first molecular genetic study of USH1 inFinland. We have found three new pathological mutations causing eitherpremature termination of translation or replacement of an evolutionaryconserved MYO7A amino acid.

[学科分类] 生物化学/生物物理