Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

被引：222

作者：

Krawitz, Peter M. ^{[1
,2
,3
]}

Schweiger, Michal R. ^{[1
,2
]}

Roedelsperger, Christian ^{[1
,3
]}

Marcelis, Carlo ^{[4
]}

Koelsch, Uwe ^{[5
]}

Meisel, Christian ^{[5
]}

Stephani, Friederike ^{[4
]}

Kinoshita, Taroh ^{[6
]}

Murakami, Yoshiko ^{[6
]}

Bauer, Sebastian ^{[2
]}

Isau, Melanie ^{[1
]}

Fischer, Axel ^{[1
]}

Dahl, Andreas ^{[1
]}

Kerick, Martin ^{[1
]}

Hecht, Jochen ^{[1
,3
]}

Koehler, Sebastian ^{[2
]}

Jaeger, Marten ^{[2
]}

Gruenhagen, Johannes ^{[2
]}

de Condor, Birgit Jonske ^{[2
]}

Doelken, Sandra ^{[2
]}

Brunner, Han G. ^{[4
]}

Meinecke, Peter ^{[7
]}

Passarge, Eberhard ^{[8
]}

Thompson, Miles D. ^{[9
]}

Cole, David E. ^{[9
]}

Horn, Denise ^{[2
]}

Roscioli, Tony ^{[4
,10
]}

Mundlos, Stefan ^{[1
,2
,3
]}

Robinson, Peter N. ^{[1
,2
,3
]}

机构：

[1] Max Planck Inst Mol Genet, Berlin, Germany

[2] Charite Univ Med Berlin, Inst Med Genet, Berlin, Germany

[3] Charite Univ Med Berlin, Berlin Brandenburg Ctr Regenerat Therapies BCRI, Berlin, Germany

[4] Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[5] Charite Univ Med Berlin, Inst Med Immunol, Berlin, Germany

[6] Osaka Univ, Microbial Dis Res Inst, Dept Immunoregulat, Osaka, Japan

[7] Altonaer Kinderkrankenhaus, Hamburg, Germany

[8] Univ Klinikum Essen, Inst Humangenet, Essen, Germany

[9] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON, Canada

[10] Univ Sydney, Dept Mol & Clin Genet, Sydney, NSW 2006, Australia

来源：

NATURE GENETICS | 2010年 / 42卷 / 10期

基金：

英国医学研究理事会; 加拿大健康研究院;

关键词：

GLYCOSYLPHOSPHATIDYLINOSITOL; DEFICIENCY; ANOMALIES; SEIZURES;

D O I：

10.1038/ng.653

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase. We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in HPMR. We identified homozygous or compound heterozygous mutations in PIGV in three additional families.

引用

页码：827 / 829

页数：3

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