title: Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort.
abstract: Deafness is a heterogeneous trait with many known genetic and environmental causes. Hereditary hearing loss is an extremely common disorder in the general population. Mutations in mitochondrial DNA (mtDNA) are known to be associated with nonsyndromic deafness (NSD) and syndromic deafness. The objective of this article is to investigate the frequency of common mitochondrial mutations (A1555G, G7444A, and A3243G) in an ethnically diverse cohort of probands with NSD from South Florida. These patients were ascertained at the University of Miami. Polymerase chain reaction-restriction fragment length polymorphism analysis and direct sequencing methods were used for mutation screening in a cohort of 217 patients with NSD. The frequency of common mitochondrial mutations is 1.84% (4/217) in this cohort. A1555G and G7444A accounted for four patients with NSD. Our mutation frequencies are comparable with those previously reported in other populations, indicating that mutations in mtDNA are an important cause of NSD in our patient cohort.
authors.affiliation: Department of Otolaryngology, University of Miami Ear Institute, Miami, Florida 33136, USA.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Vivero
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Ouyang
authors.forename: Denise
authors.initials: D
authors.lastname: Yan
authors.forename: Lilin
authors.initials: L
authors.lastname: Du
authors.forename: Wendy
authors.initials: W
authors.lastname: Liu
authors.forename: Simon I
authors.initials: SI
authors.lastname: Angeli
authors.forename: Xue Zhong
authors.initials: XZ
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000145:classification / Q000235:genetics*; D005260:Female; D005431:Florida; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial