title: [Hearing loss and epilepsy may be associated with the novel mitochondrial tRNASer(UCN) 7472delC mutation in a Chinese family].
abstract: Mutations in mitochondrial DNA have been associated with a wide spectrum of clinical abnormalities. We reported here the clinical and genetic evaluations as well as mutational analysis of mitochondrial DNA(mtDNA) in a three-generation Chinese Han family with maternally transmitted hearing loss and epilepsy. Of 14 matrilineal relatives, three suffered from hearing loss, three had epilepsy, and other did not have significant clinical abnormalities. Sequence analysis of mitochondrial genome in this family identified the novel 7472delC in tRNASer(UCN) and 33 variants belonging to Asian haplogroup B4b1a2. The 7472delC locates at the highly conserved residue of T-arm of this tRNA. In fact, the 7472insC at the same position of this tRNA has been associated with hearing loss and epilepsy in several genetically unrelated families. The 7472insC has been shown to lead to a failure in tRNA metabolism and mitochondrial dysfunction. Thus, 7472delC mutation, similar to 7472insC mutation, may result in the mitochondrial dysfunctions responsible for the hearing loss and epilepsy. Furthermore, none of mutation in deafness-associated GJB2 gene was detected in this Chinese family. Therefore, the 7472delC is likely a new mitochondrial mutation with hearing loss and epilepsy.
authors.affiliation: Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Otolaryngology, the First Affiliated Hospital, Wenzhou Medical College, Wenzhou 325035, China. jkmama@163.com
authors.forename: Jian-Yue
authors.initials: JY
authors.lastname: Zhao
authors.forename: Xiao-Wen
authors.initials: XW
authors.lastname: Tang
authors.forename: Jin-Shan
authors.initials: JS
authors.lastname: Lan
authors.forename: Jian-Xin
authors.initials: JX
authors.lastname: Lv
authors.forename: Li
authors.initials: L
authors.lastname: Yang
authors.forename: Zhi-Yuan
authors.initials: ZY
authors.lastname: Li
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhu
authors.forename: Dong-Mei
authors.initials: DM
authors.lastname: Sun
authors.forename: Ai-Fen
authors.initials: AF
authors.lastname: Yang
authors.forename: Jin-Dan
authors.initials: JD
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Xu
authors.forename: Min-Xin
authors.initials: MX
authors.lastname: Guan
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D004827:Epilepsy / Q000208:ethnology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D034381:Hearing Loss / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009690:Nucleic Acid Conformation; D010375:Pedigree; D012362:RNA, Transfer, Ser / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D012362:RNA, Transfer, Ser; D000072259:Connexin 26