期刊
GENETICS IN MEDICINE
卷 12, 期 8, 页码 512-516出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/GIM.0b013e3181e5afb8
关键词
Usher syndrome; DNA screening; prevalence; retinitis pigmentosa; hearing loss; pediatrics; newborn hearing screening
资金
- Foundation Fighting Blindness
- Hear See Hope Foundation
- Howard Hughes Medical Institute
- NIDCD [RO1 DCOO2842]
- Research to Prevent Blindness
- National Health and Medical Research Council (NHMRC)
- Doris Duke Clinical Research Fellowship
Purpose: Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs. Methods: A total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed >= 1 pathogenic mutations in any Usher gene. Results: Fifteen children carried pathogenic mutations in one of the Usher genes; the number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000. Conclusion: Usher syndrome is more prevalent than has been reported before the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs. Genet Med 2010:12(8):512-516.
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