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Mitochondrial 12S rRNA A1555G mutation associated with nonsyn-dromic hearing loss in twenty-five Han Chinese pedigrees

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  • 1. Department of Otolaryngology, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical College, Wenzhou 325027, China; 2. Department of Otolaryngology, Yuyao People’s Hospital, Ningbo 315400, China; 3. Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, China; 4. Department of Otolaryngology, the First Affiliated Hospital of Wenzhou Medical College, Wenzhou 325027, China; 5. College of Life Sciences, Zhejiang University, Hangzhou 310058, China

Received date: 2012-04-10

  Revised date: 2012-10-29

  Online published: 2013-01-25

Abstract

Mitochondrial 12S rRNA A1555AG mutation is one of the important causes of aminoglycoside-induced and nonsyndromic deafness. We report here the cilinical, genetic and molecular characterization of 25 Chinese families carrying the A1555G mutation.Clinical and genetic characterizations of these Chinese families exhibited a wide range of penetrance, severity and age-at-onset of hearing impairment. The average penetrances of deafness were 28.1% and 21.5%, respectively, when aminoglycoside-induced hearing loss was included or excluded. Furthermore, the average age-of-onset for deafness without aminoglycoside exposure ranged from 1 and 15 years old. Their mitochondrial genomes exhibited distinct sets of polymorphisms including 16 novel variants, belonging to ten Eastern Asian haplogroups A, B, D, F, G, M, N and R, respec-tively. Strikingly, these Chinese families carrying mitochondrial haplogroup B exhibited higher penetrance and expressivity of hearing loss. In addition, 7 known secondary mutations and 21 variants resided at the highly conservative residues may enhance the penetrace of hearing loss in these Chinese families. Moreover, the absence of mutation in GJB2 gene suggested that GJB2 may not be a modifier for the phenotypic expression of the A1555G mutation in these Chinese families. These observations suggested that mitochondrial haplotypes and other modifiers may modulate the variable pene-trance and expressivity of deafness among these Chinese families.

Cite this article

PENG Guang-Hua ZHENG Bin-Jiao FANG Fang WU Yue LIANG Ling-Zhi ZHENG Jing NAN Ben-Yu YU Xiao TANG Xiao-Wen ZHU Yi LU Jian-Xin CHEN Bo-Bei GUAN Min-Xin . Mitochondrial 12S rRNA A1555G mutation associated with nonsyn-dromic hearing loss in twenty-five Han Chinese pedigrees[J]. Hereditas(Beijing), 2013 , 35(1) : 62 -72 . DOI: 10.3724/SP.J.1005.2013.00062

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