Whole Exome Sequencing in Patients with White Matter Abnormalities

被引：119

作者：

Vanderver, Adeline ^{[1
,2
,3
]}

Simons, Cas ^{[4
]}

Helman, Guy ^{[1
,2
]}

Crawford, Joanna ^{[4
]}

Wolf, Nicole I. ^{[5
]}

Bernard, Genevieve ^{[6
,7
,8
]}

Pizzino, Amy ^{[1
]}

Schmidt, Johanna L. ^{[1
,2
]}

Takanohashi, Asako ^{[2
]}

Miller, David ^{[4
,9
]}

Khouzam, Amirah ^{[10
]}

Rajan, Vani ^{[10
]}

Ramos, Erica ^{[10
]}

Chowdhury, Shimul ^{[10
]}

Hambuch, Tina ^{[10
]}

Ru, Kelin ^{[4
]}

Baillie, Gregory J. ^{[4
]}

Grimmond, Sean M. ^{[4
,9
]}

Caldovic, Ljubica ^{[2
]}

Devaney, Joseph ^{[2
]}

Bloom, Miriam ^{[11
]}

Evans, Sarah H. ^{[12
]}

Murphy, Jennifer L. P. ^{[1
]}

McNeill, Nathan ^{[13
]}

Fogel, Brent L. ^{[14
]}

Schiffmann, Raphael ^{[13
]}

van der Knaap, Marjo S. ^{[5
,15
]}

Taft, Ryan J. ^{[3
,4
,10
]}

机构：

[1] Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USA

[2] Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA

[3] George Washington Univ, Sch Med & Hlth Sci, Washington, DC 20052 USA

[4] Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia

[5] Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, Amsterdam, Netherlands

[6] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Pediat, Montreal, PQ H3H 1P3, Canada

[7] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Neurol, Montreal, PQ H3H 1P3, Canada

[8] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Neurosurg, Montreal, PQ H3H 1P3, Canada

[9] Univ Melbourne, Ctr Canc Res, Parkville, Vic 3052, Australia

[10] Illumina Inc, San Diego, CA USA

[11] Childrens Natl Med Ctr, Dept Pediat, Washington, DC 20010 USA

[12] Childrens Natl Med Ctr, Dept Phys Med & Rehabil, Washington, DC 20010 USA

[13] Baylor Res Inst, Inst Metab Dis, Dallas, TX USA

[14] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

[15] Vrije Univ Amsterdam, Dept Funct Genom, Amsterdam, Netherlands

来源：

ANNALS OF NEUROLOGY | 2016年 / 79卷 / 06期

基金：

英国医学研究理事会; 澳大利亚研究理事会;

关键词：

DE-NOVO MUTATION; INTELLECTUAL DISABILITY; DISORDERS; LEUKODYSTROPHIES; DIAGNOSIS; LEUKOENCEPHALOPATHY; DISEASE; GENOME; GENE; HYPOMYELINATION;

D O I：

10.1002/ana.24650

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant genes in a further 7% (5 of 71) of cases, giving a total yield of clinical diagnoses in 42% of individuals. These findings provide evidence that WES can substantially decrease the number of unresolved white matter cases.

引用

页码：1031 / 1037

页数：7

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