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期刊名称: Human Genetics
Volume:135    Issue:4        Page:441-450
ISSN:0340-6717

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss期刊论文

作者: Sloan-Heggen Christina M Bierer Amanda O Shearer A Eliot Kolbe Diana L Nishimura Carla J
DOI:10.1007/s00439-016-1648-8

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页码: 441-450
被引频次: 60
出版者: Springer Berlin Heidelberg,SPRINGER,Springer Science & Business Media,Springer
期刊名称: Human Genetics
ISSN: 0340-6717
卷期: Volume:135    Issue:4
语言: English
摘要: Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic hearing loss, we performed comprehensive clinical genetic testing with targeted genomic enrichment and massively parallel sequencing on 1119 sequentially accrued patients. No patient was excluded based on phenotype, inheritance or previous testing. Testing resulted in identification of the underlying genetic cause for hearing loss in 440 patients (39 %). Pathogenic variants were found in 49 genes and included missense variants (49 %), large copy number changes (18 %), small insertions and deletions (18 %), nonsense variants (8 %), splice-site alterations (6 %), and promoter variants (<1 %). The diagnostic rate varied considerably based on phenotype and was highest for patients with a positive family history of hearing loss or when the loss was congenital and symmetric. The spectrum of implicated genes showed wide ethnic variability. These findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss.
相关主题: Human Genetics, Gene Function, Molecular Medicine, Biomedicine, Metabolic Diseases, UNITED-STATES, POPULATION, DIAGNOSIS, VARIANTS, GJB2 CONNEXIN-26, FREQUENCY, GENETICS & HEREDITY, DEAFNESS, MUTATIONS, BRANCHIOOTORENAL SYNDROME, IMPAIRMENT, Neonates, Algorithms, Insertion, genomics, Heredity, Gene deletion, copy number, Promoters, Genetic screening, Hearing loss, Hearing Loss - genetics, Hearing Loss - diagnosis, Genetic Testing, Humans, Adolescent, Child, Preschool, Female, Infant, Male, Child, Genetic Heterogeneity,

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