The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases

被引：24

作者：

Arning, Larissa ^{[1
]}

Epplen, Joerg T. ^{[1
]}

Rahikkala, Elisa ^{[2
]}

Hendrich, Corinna ^{[3
]}

Ludolph, Albert C. ^{[3
]}

Sperfeld, Anne-Dorte ^{[3
]}

机构：

[1] Ruhr Univ Bochum, Dept Human Genet, D-44780 Bochum, Germany

[2] Univ Oulu, Dept Clin Genet, Oulu Univ Hosp, Oulu, Finland

[3] Univ Ulm, Dept Neurol, D-89069 Ulm, Germany

来源：

NEUROGENETICS | 2013年 / 14卷 / 01期

关键词：

SETX; amyotrophic lateral sclerosis; ALS4; Ataxia; AOA2; Missense mutations; AMYOTROPHIC-LATERAL-SCLEROSIS; OCULOMOTOR APRAXIA TYPE-2; ATAXIA; MUTATIONS; SENATAXIN; GENE; HELICASE; ONSET; FORM;

D O I：

10.1007/s10048-012-0347-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in the senataxin (SETX) gene can cause amyotrophic lateral sclerosis 4 (ALS4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. Great caution regarding the possible disease causation, especially of missense variations, has to be taken. Here, we evaluated the significance of all previously reported SETX missense mutations as well as six newly identified variations in 54 patients suspected of having ALS4. Yet, epidemiologic and in silico evidence indicates that all newly identified variations and two previously published ALS4-related missense variations (C1554G and I2547T) are most likely non-pathogenic, demonstrating the problems of interpretation of SETX missense alleles in the absence of functional assays.

引用

页码：53 / 61

页数：9

共 23 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [J].

Anheim, M. ;

Monga, B. ;

Fleury, M. ;

Charles, P. ;

Barbot, C. ;

Salih, M. ;

Delaunoy, J. P. ;

Fritsch, M. ;

Arning, L. ;

Synofzik, M. ;

Schoels, L. ;

Sequeiros, J. ;

Goizet, C. ;

Marelli, C. ;

Le Ber, I. ;

Koht, J. ;

Gazulla, J. ;

De Bleecker, J. ;

Mukhtar, M. ;

Drouot, N. ;

Ali-Pacha, L. ;

Benhassine, T. ;

Chbicheb, M. ;

M'Zahem, A. ;

Hamri, A. ;

Chabrol, B. ;

Pouget, J. ;

Murphy, R. ;

Watanabe, M. ;

Coutinho, P. ;

Tazir, M. ;

Durr, A. ;

Brice, A. ;

Tranchant, C. ;

Koenig, M. .

BRAIN, 2009, 132 :2688-2698

[3] Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families [J].

Anheim, Mathieu ;

Fleury, Marie-Celine ;

Franques, Jerome ;

Moreira, Maria-Ceu ;

Delaunoy, Jean-Pierre ;

Stoppa-Lyonnet, Dominique ;

Koenig, Michel ;

Tranchant, Christine .

ARCHIVES OF NEUROLOGY, 2008, 65 (07) :958-962

[4] Autosomal recessive ataxia with peripheral neuropathy and elevated AFP:: Novel mutations in SETX [J].

Asaka, T ;

Yokoji, H ;

Ito, J ;

Yamaguchi, K ;

Matsushima, A .

NEUROLOGY, 2006, 66 (10) :1580-1581

[5] Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression [J].

Avemaria, Francesca ;

Lunetta, Christian ;

Tarlarini, Claudia ;

Mosca, Lorena ;

Maestri, Eleonora ;

Marocchi, Alessandro ;

Melazzini, Mario ;

Penco, Silvana ;

Corbo, Massimo .

AMYOTROPHIC LATERAL SCLEROSIS, 2011, 12 (03) :228-230

[6] In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome [J].

Bassuk, A. G. ;

Chen, Y. Z. ;

Batish, S. D. ;

Nagan, N. ;

Opal, P. ;

Chance, P. F. ;

Bennett, C. L. .

NEUROGENETICS, 2007, 8 (01) :45-49

[7] Ataxia with Oculomotor Apraxia Type 2: Novel Mutations in Six Patients with Juvenile Age of Onset and Elevated Serum α-Fetoprotein [J].

Bernard, V. ;

Stricker, S. ;

Kreuz, F. ;

Minnerop, M. ;

Gillessen-Kaesbach, G. ;

Zuehlke, C. .

NEUROPEDIATRICS, 2008, 39 (06) :347-350

[8]

Blair IP, 2000, NEUROGENETICS, V3, P1

[9] El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis [J].

Brooks, BR ;

Miller, RG ;

Swash, M ;

Munsat, TL .

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS, 2000, 1 (05) :293-299

[10] Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34 [J].

Chance, PF ;

Rabin, BA ;

Ryan, SG ;

Ding, Y ;

Scavina, M ;

Crain, B ;

Griffin, JW ;

Cornblath, DR .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :633-640

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