Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

被引：164

作者：

Green, Peter ^{[2
]}

Wiseman, Matthew ^{[2
]}

Crow, Yanick J. ^{[3
]}

Houlden, Henry ^{[4
]}

Riphagen, Shelley ^{[5
]}

Lin, Jean-Pierre ^{[6
]}

Raymond, F. Lucy ^{[7
]}

Childs, Anne-Marie ^{[8
]}

Sheridan, Eamonn ^{[9
]}

Edwards, Sian ^{[2
]}

Josifova, Dragana J. ^{[1
]}

机构：

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

[2] Kings Coll London, Dept Med & Mol Genet, London SE1 9RT, England

[3] Univ Manchester, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England

[4] Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England

[5] St Thomas Hosp, Evelina Childrens Hosp, Paediat Intens Care Unit, London SE1 7EH, England

[6] St Thomas Hosp, Evelina Childrens Hosp, Dept Paediat Neurol, London SE1 7EH, England

[7] Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England

[8] Gen Infirm, Leeds Teaching Hosp HNS, Dept Paediat Neurol, Leeds LS1 3EX, W Yorkshire, England

[9] St James Univ Hosp, Leeds Inst Mol Med, Genet Sect, Leeds LS9 7TF, W Yorkshire, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2010年 / 86卷 / 03期

关键词：

VANLAERE SYNDROME; IDENTIFICATION;

D O I：

10.1016/j.ajhg.2010.02.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified a candidate gene, C20orf54, by studying a consanguineous family with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families.

引用

页码：485 / 489

页数：5

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