RT Journal Article
SR Electronic
T1 Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 229
OP 231
DO 10.1136/jmg.38.4.229
VO 38
IS 4
A1 T P Hutchin
A1 K R Thompson
A1 M Parker
A1 V Newton
A1 M Bitner-Glindzicz
A1 R F Mueller
YR 2001
UL http://jmg.bmj.com/content/38/4/229.abstract
AB 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.