biostudies-literatureUnknown7(12)Kytovuori LStiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkléns MinneSigrid Juséliuksen Säätiö<h4>Objectives</h4>Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The <i>MT-TS1</i> gene is a hotspot for mutations causing HI. The m.7510T>C mutation in <i>MT-TS1</i> has been previously associated with non-syndromic HI in four families from different ethnic backgrounds.<h4>Materials and methods</h4>We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m.7510T>C mutation in mitochondrial DNA.<h4>Results</h4>The family proband presented with a progressive mitochondrial disease phenotype including migraine, epilepsy, mild ataxia, and cognitive impairment in addition to HI. One young adult presented with HI only. Other family members had a milBrain and behaviore00859https://www.ebi.ac.uk/biostudies/studies/S-EPMC5745241biostudies-literatureThe m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.PMC5745241Gardberg MMajamaa KKytovuori LMartikainen MHfalseThe m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.<h4>Objectives</h4>Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The <i>MT-TS1</i> gene is a hotspot for mutations causing HI. The m.7510T>C mutation in <i>MT-TS1</i> has been previously associated with non-syndromic HI in four families from different ethnic backgrounds.<h4>Materials and methods</h4>We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m.7510T>C mutation in mitochondrial DNA.<h4>Results</h4>The family proband presented with a progressive mitochondrial disease phenotype including migraine, epilepsy, mild ataxia, and cognitive impairment in addition to HI. One young adult presented with HI only. Other family members had a mil2017-01-01T00:00:00Z2017 Dec2026-05-02T09:25:17.688Z2019-03-27T03:05:52ZS-EPMC57452412929938110.1002/brb3.859