Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment

BMC Medical Genetics

Kari Majamaa²  Martti Sorri³  Mirja Luotonen¹  Sanna Häkli⁴ 

[1] Department of Otorhinolaryngology, Oulu University Hospital, Oulu, Finland;Department of Neurology, Oulu University Hospital, Oulu, Finland;Institute of Clinical Medicine, Department of Otorhinolaryngology, University of Oulu, Oulu, Finland;Department of Clinical Medicine, Otorhinolaryngology, University of Oulu, Oulu, FIN-90014, Finland

关键词: Rare variants;    Mutations;    Mitochondrial DNA;    Hearing loss;    Haplogroup;   

Others  :  1122503
DOI  :  10.1186/s12881-015-0145-6

 received in 2013-10-25, accepted in 2015-01-17,  发布年份 2015

【 摘 要 】

Background

Mutations in the two MT-RNR genes in mitochondrial DNA can cause hearing impairment that presents with variable severity and age of onset. In order to study the prevalence of mutations in MT-RNR1 and MT-RNR2 genes among Finnish children, we studied a ten-year cohort of hearing impaired children born in Northern Finland.

Methods

We studied children, who had been born in Northern Finland in 1993–2002 and who had been ascertained to have hearing impairment by 31 December 2007. Samples from 103 children were sequenced in order to find mutations in the MT-RNR1 and MT-RNR2 genes.

Results

One child harboured the pathogenic m.1555A > G mutation in MT-RNR1 suggesting a frequency of 4.4/100,000 in the Finnish paediatric population. In addition, eight rare variants and 13 polymorphisms were found in MT-RNR1 and MT-RNR2 genes. Five of the rare variants were deemed to be haplogroup-specific polymorphisms rather than putative pathogenic mutations, while the remaining three variants have been reported in various haplogroups. Among them m.990 T > C occurs at a conserved site.

Conclusions

The presence of m.990 T > C variant in various haplogroups and the rather high degree of conservation at this site suggest that this transition is a pathogenic rather than homoplasic neutral variant. Identification of further patients with m.990 T > C and segregation analysis in their families should help in determining the pathogenic potential of this variant.

【 授权许可】

   
2015 Häkli et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

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