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01.12.2017 | Research article | Ausgabe 1/2017 Open Access

BMC Medical Genetics 1/2017

Mitochondrial mutations in maternally inherited hearing loss

Zeitschrift:
BMC Medical Genetics > Ausgabe 1/2017
Autoren:
Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa, Tatsuo Matsunaga
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s12881-017-0389-4) contains supplementary material, which is available to authorized users.

Abstract

Background

Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL.

Methods

Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL. Sequencing of additional mtDNA regions was performed for five subjects meeting the clinical criteria, but the screening results were negative.

Results

Among the nine cases meeting the five clinical criteria detailed above, three had the m.1555A > G mutation in MTRNR1, one had a m.3243A > G mutation in MTTL1, and one case had a m.7511T > C mutation in MTTS1. In the family with the m.7511T > C mutation, penetrance of SNHL among maternally related subjects was 9/17 (53%). The age at onset varied from birth (congenital) to adulthood. Hearing levels varied from normal to moderately impaired, unlike previously reported subjects with this mutation, where some maternal family members presented with profound SNHL. Family members with the m.7511T > C mutation and SNHL did not exhibit any specific clinical characteristics distinct from those of other individuals with SNHL and different mtDNA mutations. Among the 136 probands who did not meet the criteria detailed above, one case had the m.1555A > G mutation, and three cases had the m.3243A > G mutation.

Conclusions

Since five of nine probands with the clinical criteria used in this study had mtDNA mutations, these criteria may be helpful for identification of candidate patients likely to have mtDNA mutations.
Zusatzmaterial
Additional file 1: Primers used in this study. (XLSX 11 kb)
12881_2017_389_MOESM1_ESM.xlsx
Additional file 2: mtDNA variants detected in 5 probands fulfilling the 5 criteria. (XLSX 12 kb)
12881_2017_389_MOESM2_ESM.xlsx
Additional file 3: Clinical features of probands carrying m.1555A > G or m.3243A > G. (XLSX 11 kb)
12881_2017_389_MOESM3_ESM.xlsx
Literatur
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