Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment

• Published in: Journal of medical genetics Vol. 38; no. 4; pp. 229 - 231
• Main Authors: Hutchin, T P, Thompson, K R, Parker, M, Newton, V, Bitner-Glindzicz, M, Mueller, R F
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.04.2001; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Age; Age of Onset; Biological and medical sciences; Deoxyribonucleic acid; DNA; DNA - chemistry; DNA - genetics; DNA Mutational Analysis; DNA, Mitochondrial - genetics; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Enzymes; Family Health; Female; Gene Frequency; Genetic aspects; Health risk assessment; Hearing disorders; hearing impairment; Hearing loss; Hearing Loss, Sensorineural - genetics; Humans; Male; Medical research; Medical sciences; Mitochondrial DNA; Mutation; Non tumoral diseases; Original; Otorhinolaryngology. Stomatology; Pedigree; point mutation; Polymorphism, Restriction Fragment Length; Population; Studies; Human; Prevalence; Congenital; Sporadic; Family study; Pathogenesis; Auditory disorder; Clinical form; Mitochondrial DNA; Genetic determinism; Mitochondrial disorder; Genetic disease; Point mutation; ENT disease; Perception hearing loss; Mutation
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.38.4.229

Genetic factors are the major causes of childhood hearing impairment. Whereas autosomal recessive mutations account for the majority of prelingual non-syndromic sensorineural hearing impairment (NSSHI), the relative contribution of mitochondrial DNA (mtDNA) mutations to childhood onset NSSHI has not been established. We screened 202 subjects with congenital/childhood onset NSSHI, consisting of 110 sporadic cases, 75 sib pairs, and 17 families with affected subjects in more than one generation, in order to determine the prevalence of mtDNA mutations associated with NSSHI. mtDNA mutations were found in three of 10 families (30%) in whom the affected members were related through the maternal lineage. One sporadic case (0.9%) was also found to have a known mtDNA mutation but none was found in the sib pairs. Although the prevalence of mtDNA mutations was low in the group as a whole (2%), we suggest that screening should be considered in cases of childhood hearing impairment when it is progressive and particularly in families where transmission is compatible with maternal inheritance.