Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

被引：374

作者：

Moreira, MC

Klur, S

Watanabe, M

Németh, AH

Le Ber, I

Moniz, JC

Tranchant, C

Aubourg, P

Tazir, M

Schöls, L

Pandolfo, M

Schulz, JB

Pouget, J

Calvas, P

Shizuka-Ikeda, M

Shoji, M

Tanaka, M

Izatt, L

Shaw, CE

M'Zahem, A

Dunne, E

Bomont, P

Benhassine, T

Bouslam, N

Stevanin, G

Brice, A

Guimaraes, J

Mendonça, P

Barbot, C

Coutinho, P

Sequeiros, J

Dürr, A

Warter, JM

Koenig, M ^{[1
]}

机构：

[1] ULP, CNRS, INSERM, IGBMC, F-67404 Illkirch Graffenstaden, Cu Strasbourg, France

[2] Gunma Univ, Sch Med, Maebashi, Gumma 3718511, Japan

[3] Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[4] Hop La Pitie Salpetriere, APHP, INSERM, U289, F-75651 Paris, France

[5] Hop La Pitie Salpetriere, APHP, Dept Genet Cytogenet & Embryol, F-75651 Paris, France

[6] Hosp Sto Antonio dos Capuchos, Lisbon, Portugal

[7] Hop Univ Strasbourg, F-67091 Strasbourg, France

[8] Hop St Vincent de Paul, INSERM, U342, F-75675 Paris, France

[9] Ctr Hosp Univ Algier, Algiers, Algeria

[10] Ruhr Univ Bochum, St Josef Hosp, Dept Neurol, Bochum, Germany

[11] Free Univ Brussels, Hop Erasme, B-1070 Brussels, Belgium

[12] Univ Tubingen, Ctr Neurol, Dept Gen Neurol, D-72076 Tubingen, Germany

[13] Univ Tubingen, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany

[14] Hop Timone Adults, F-13385 Marseille, France

[15] Hop Purpan, F-31059 Toulouse, France

[16] Guys Hosp, Dept Clin Genet, London SE1 9RT, England

[17] Univ London Kings Coll, Inst Psychiat, London SE5 8AF, England

[18] Guys Kings & St Thomas Sch Med, London SE5 8AF, England

[19] Ctr Hosp Univ Ben Badis, Constantine, Algeria

[20] Inst Pasteur Alger, Algiers, Algeria

[21] Hosp Egas Moniz, Lisbon, Portugal

[22] Hosp Divino Espirito Santo, Dept Hematol, Azores, Portugal

[23] Univ Porto, UnIGENe, IBMC, ICBAS, P-4150180 Oporto, Portugal

[24] Hosp Maria Pia, Dept Neuropediat, P-4050 Oporto, Portugal

[25] Hosp Sao Sebastiao, Dept Neurol, P-4520 Sta Maria Da Feira, Portugal

来源：

NATURE GENETICS | 2004年 / 36卷 / 03期

关键词：

D O I：

10.1038/ng1303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.

引用

页码：225 / 227

页数：3

共 15 条

[1] Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23 [J].