Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene

被引：148

作者：

Sue, CM

Tanji, K

Hadjigeorgiou, G

Andreu, AL

Nishino, I

Krishna, S

Bruno, C

Hirano, M

Shanske, S

Bonilla, E

Fischel-Ghodsian, N

DiMauro, S

Friedman, R

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[2] Columbia Univ Coll Phys & Surg, Dept Pathol, New York, NY 10032 USA

[3] Hosp Gen Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona, Spain

[4] Cedars Sinai Med Ctr, Dept Pediat, Steven Spielberg Pediat Res Ctr, Los Angeles, CA 90048 USA

[5] House Ear Clin, Los Angeles, CA USA

[6] House Ear Inst, Los Angeles, CA USA

来源：

NEUROLOGY | 1999年 / 52卷 / 09期

关键词：

D O I：

10.1212/WNL.52.9.1905

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Thirty-six of 43 maternally related members of a large African American family experienced hearing loss. A muscle biopsy specimen from the proband showed cytochrome c oxidase (COX)-deficient fibers but no ragged-red fibers; biochemical analysis showed marked reduction of COX activity. A novel T7511C point mutation in the tRNA(Ser(UCN)) gene was present in almost homoplasmic levels (>95%) in the blood of 18 of 20 family members, and was also found in lower abundance in the other two. Single-fiber PCR showed that the mutational load was greater in COX-deficient muscle fibers. The tRNA(Ser(UCN)) gene may be a "hot spot" for mutations associated with maternally transmitted hearing loss.

引用

页码：1905 / 1908

页数：4

共 10 条

[1] FRIEDMAN RA, 1999, IN PRESS AM J MED GE
[2] Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNASer(UCN) gene
Jaksch, M
Klopstock, T
Kurlemann, G
Dörner, M
Hofmann, S
Kleinle, S
Hegemann, S
Weissert, M
Müller-Höcker, J
Pongratz, D
Gerbitz, KD
[J]. ANNALS OF NEUROLOGY, 1998, 44 (04) : 635 - 640
[3] MORAES CT, 1992, AM J HUM GENET, V50, P934
[4] A NOVEL POINT MUTATION IN THE MITOCHONDRIAL TRNA(SER(UCN)) GENE DETECTED IN A FAMILY WITH MERRF MELAS OVERLAP SYNDROME
NAKAMURA, M
NAKANO, S
GOTO, Y
OZAWA, M
NAGAHAMA, Y
FUKUYAMA, H
AKIGUCHI, I
KAJI, R
KIMURA, J
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1995, 214 (01) : 86 - 93
[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] Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome
Rieder, MJ
Taylor, SL
Tobe, VO
Nickerson, DA
[J]. NUCLEIC ACIDS RESEARCH, 1998, 26 (04) : 967 - 973
[8] Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutation
Schuelke, M
Bakker, M
Stoltenburg, G
Sperner, J
von Moers, A
[J]. ANNALS OF NEUROLOGY, 1998, 44 (04) : 700 - 704
[9] MATERNALLY INHERITED HEARING-LOSS, ATAXIA AND MYOCLONUS ASSOCIATED WITH A NOVEL POINT MUTATION IN MITOCHONDRIAL TRNA(SER(UCN)) GENE
TIRANTI, V
CHARIOT, P
CARELLA, F
TOSCANO, A
SOLIVERI, P
GIRLANDA, P
CARRARA, F
FRATTA, GM
REID, FM
MARIOTTI, C
ZEVIANI, M
[J]. HUMAN MOLECULAR GENETICS, 1995, 4 (08) : 1421 - 1427
[10] Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene
Verhoeven, K
Ensink, RJH
Tiranti, V
Huygen, PLM
Johnson, DF
Schatteman, I
Van Laer, L
Verstreken, M
Van de Heyning, P
Fischel-Ghodsian, N
Zeviani, M
Cremers, CWRJ
Willems, PJ
Van Camp, G
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (01) : 45 - 51

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