DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

ABSTRACT:

Objectives

Aetiological assessment of 71 probands whose clinical presentation suggested a genetic syndrome or auditory neuropathy.

Methods

Sanger sequencing was performed on DNA isolated from peripheral blood or lymphoblastoid cell lines. Genes were selected for sequencing based on each patient's clinical presentation and suspected diagnosis. Observed DNA sequence variations were assessed for pathogenicity by review of the scientific literature, and mutation and polymorphism databases, through the use of in silico tools including sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen), and according to the recommendations of the American College of Medical Genetics and Genomics for the interpretation of DNA sequence variations. Novel DNA sequence vari

SUBMITTER: Tang HY 

PROVIDER: S-EPMC4442153 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature