Exome sequencing in a family with restless legs syndrome

被引：16

作者：

Weissbach, Anne ^{[1
]}

Siegesmund, Katharina ^{[1
]}

Brueggemann, Norbert ^{[1
]}

Schmidt, Alexander ^{[1
]}

Kasten, Meike ^{[1
,2
]}

Pichler, Irene ^{[3
,4
,5
]}

Muhle, Hiltrud ^{[6
]}

Lohmann, Ebba ^{[7
]}

Lohnau, Thora ^{[1
]}

Schwinger, Eberhard ^{[8
]}

Hagenah, Johann ^{[1
]}

Stephani, Ulrich ^{[6
]}

Pramstaller, Peter P. ^{[3
,4
,5
]}

Klein, Christine ^{[1
]}

Lohmann, Katja ^{[1
]}

机构：

[1] Med Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany

[2] Med Univ Lubeck, Dept Psychiat & Psychotherapy, D-23538 Lubeck, Germany

[3] Ctr Biomed, Bolzano, Italy

[4] European Acad Bozen Bolzano, Bolzano, Italy

[5] Med Univ Lubeck, Affiliated Inst, D-23538 Lubeck, Germany

[6] Univ Kiel, Dept Neuropediat, Kiel, Germany

[7] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Behav Neurol & Movement Disorders Unit, Istanbul, Turkey

[8] Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

来源：

MOVEMENT DISORDERS | 2012年 / 27卷 / 13期

关键词：

restless legs syndrome; next-generation sequencing; genome-wide linkage analysis; PCDHA3; SUSCEPTIBILITY LOCUS; LINKAGE ANALYSIS; POPULATION; MUTATIONS; PROTEIN; SERVER; SLEEP; MAPS;

D O I：

10.1002/mds.25191

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. Methods: We evaluated a German family with autosomal dominantly inherited RLS in 7 definitely and 2 possibly affected members by genome-wide linkage analysis and exome sequencing. Results: We identified three novel missense and one splice site variant in the PCDHA3, WWC2, ATRN, and FAT2 genes that segregated with RLS in the family. All four exons of the PCDHA3 gene, the most plausible candidate, were sequenced in 64 unrelated RLS cases and 250 controls. This revealed three additional rare missense variants (frequency <1%) of unknown pathogenicity in 2 patients and 1 control. Conclusions: We present the first next-generation sequencing study on RLS and suggest PCDHA3 as a candidate gene for RLS. (C) 2012 Movement Disorder Society

引用

页码：1686 / 1689

页数：4

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