Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment
Open Access
- 1 April 2001
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 38 (4), 229-231
- https://doi.org/10.1136/jmg.38.4.229
Abstract
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.Keywords
This publication has 10 references indexed in Scilit:
- Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutationEuropean Journal of Human Genetics, 2001
- A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairmentJournal of Medical Genetics, 2000
- Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairmentEuropean Journal of Human Genetics, 2000
- Prevalence of mitochondrial gene mutations among hearing impaired patientsJournal of Medical Genetics, 2000
- Mitochondrial deafness mutations reviewedHuman Mutation, 1999
- Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN) geneAnnals of Neurology, 1998
- Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with AminoglycosidesAmerican Journal of Human Genetics, 1998
- Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) geneHuman Molecular Genetics, 1995
- A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafnessHuman Mutation, 1994
- Genetic epidemiological studies of early‐onset deafness in the U.S. school‐age populationAmerican Journal of Medical Genetics, 1993