Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: Evidence of heteroplasmy

被引:67
作者
ElSchahawi, M
deMunain, AL
Sarrazin, AM
Shanske, AL
Basirico, M
Shanske, S
DiMauro, S
机构
[1] COLUMBIA PRESBYTERIAN MED CTR,COLL PHYS & SURG 4420,DEPT NEUROL,NEW YORK,NY 10032
[2] HOSP NTRA SRA ARANZAZU,DEPT NEUROL,SAN SEBASTIAN,SPAIN
[3] ALBERT EINSTEIN COLL MED,DEPT PEDIAT,BRONX,NY 10467
关键词
D O I
10.1212/WNL.48.2.453
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We describe two unrelated Spanish families with isolated sensorineural hearing loss. In both pedigrees, the deafness was transmitted maternally, which suggested a mitochondrial DNA (mtDNA) defect. Within the same pedigree, some relatives showed aminoglycoside-induced deafness, whereas others were not exposed to aminoglycosides before the onset of hearing loss. Molecular genetic analysis in both families showed the A-to-G transition at nt 1555 (A1555G) in the mitochondrial 12S rRNA gene. In one pedigree, the mutation was homoplasmic; in the other, it was heteroplasmic. To assess the frequency of this mutation, we screened 42 patients of various ethnic backgrounds with isolated sensorineural healing loss; none harbored the A1555G mutation. This is the first report of heteroplasmy in a family with isolated sensorineural deafness associated with the A1555G mutation.
引用
收藏
页码:453 / 456
页数:4
相关论文
共 12 条
  • [1] MELAS - CLINICAL-FEATURES, BIOCHEMISTRY, AND MOLECULAR-GENETICS
    CIAFALONI, E
    RICCI, E
    SHANSKE, S
    MORAES, CT
    SILVESTRI, G
    HIRANO, M
    SIMONETTI, S
    ANGELINI, C
    DONATI, MA
    GARCIA, C
    MARTINUZZI, A
    MOSEWICH, R
    SERVIDEI, S
    ZAMMARCHI, E
    BONILLA, E
    DEVIVO, DC
    ROWLAND, LP
    SCHON, EA
    DIMAURO, S
    [J]. ANNALS OF NEUROLOGY, 1992, 31 (04) : 391 - 398
  • [2] A MOLECULAR-BASIS FOR HUMAN HYPERSENSITIVITY TO AMINOGLYCOSIDE ANTIBIOTICS
    HUTCHIN, T
    HAWORTH, I
    HIGASHI, K
    FISCHEGHODSIAN, N
    STONEKING, M
    SAHA, N
    ARNOS, C
    CORTOPASSI, G
    [J]. NUCLEIC ACIDS RESEARCH, 1993, 21 (18) : 4174 - 4179
  • [3] LI M, 1982, J BIOL CHEM, V257, P5921
  • [4] Matthijs G., 1994, American Journal of Human Genetics, V55, pA231
  • [5] MITOCHONDRIAL RIBOSOMAL-RNA MUTATION ASSOCIATED WITH BOTH ANTIBIOTIC-INDUCED AND NON-SYNDROMIC DEAFNESS
    PREZANT, TR
    AGAPIAN, JV
    BOHLMAN, MC
    BU, XD
    OZTAS, S
    QIU, WQ
    ARNOS, KS
    CORTOPASSI, GA
    JABER, L
    ROTTER, JI
    SHOHAT, M
    FISCHELGHODSIAN, N
    [J]. NATURE GENETICS, 1993, 4 (03) : 289 - 294
  • [6] A NOVEL MITOCHONDRIAL POINT MUTATION IN A MATERNAL PEDIGREE WITH SENSORINEURAL DEAFNESS
    REID, FM
    VERNHAM, GA
    JACOBS, HT
    [J]. HUMAN MUTATION, 1994, 3 (03) : 243 - 247
  • [7] Shoffner J. M., 1996, Neurology, V46, pA331
  • [8] CLINICAL-FEATURES ASSOCIATED WITH THE A-]G TRANSITION AT NUCLEOTIDE-8344 OF MTDNA (MERRF MUTATION)
    SILVESTRI, G
    CIAFALONI, E
    SANTORELLI, FM
    SHANSKE, S
    SERVIDEI, S
    GRAF, WD
    SUMI, M
    DIMAURO, S
    [J]. NEUROLOGY, 1993, 43 (06) : 1200 - 1206
  • [9] USE OF SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS TO DETECT POINT MUTATIONS IN HUMAN MITOCHONDRIAL-DNA
    SUOMALAINEN, A
    CIAFALONI, E
    KOGA, Y
    PELTONEN, L
    DIMAURO, S
    SCHON, EA
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1992, 111 (02) : 222 - 226
  • [10] VANDENOUWELAND JMW, 1992, NAT GENET, V1, P386