Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

被引：30

作者：

Ravenscroft, Gianina ^{[1
,2
]}

Thompson, Elizabeth M. ^{[6
]}

Todd, Emily J. ^{[1
,2
]}

Yau, Kyle S. ^{[1
,2
]}

Kresoje, Nina ^{[3
,4
]}

Sivadorai, Padma ^{[5
]}

Friend, Kathryn ^{[6
]}

Riley, Kate ^{[6
]}

Manton, Nicholas D. ^{[7
]}

Blumbergs, Peter ^{[8
]}

Fietz, Michael ^{[9
]}

Duff, Rachael M. ^{[1
,2
]}

Davis, Mark R. ^{[5
]}

Allcock, Richard J. ^{[3
,4
,10
]}

Laing, Nigel G. ^{[1
,2
,5
]}

机构：

[1] Univ Western Australia, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

[2] Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia

[3] Univ Western Australia, Lotterywest State Biomed Facil Genom, Perth, WA 6009, Australia

[4] Univ Western Australia, Sch Pathol & Lab Med, Perth, WA 6009, Australia

[5] Royal Perth Hosp, Dept Anat Pathol, Perth, WA, Australia

[6] Womens & Childrens Hosp, SA Pathol South Australia Clin Genet Serv, Adelaide, SA, Australia

[7] SA Pathol, Dept Surg Pathol, Adelaide, SA, Australia

[8] SA Pathol, Ctr Neurol Dis, Adelaide, SA, Australia

[9] Womens & Childrens Hosp, SA Pathol, Dept Biochem Genet, Adelaide, SA, Australia

[10] Royal Perth Hosp, Pathwest Lab Med WA, Dept Clin Immunol, Perth, WA, Australia

来源：

NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 02期

基金：

英国医学研究理事会;

关键词：

Pterygia; Whole exome sequencing; Glycogen storage disease; GBE1; Foetal akinesia; BRANCHING ENZYME GENE; CONGENITAL HYPOTONIA; IV GLYCOGENOSIS; MUSCLE; FORM; VARIANTS;

D O I：

10.1016/j.nmd.2012.11.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.956A>G; p.His319Arg) in glycogen branching enzyme 1 (GBE1). GBE1 mutations cause glycogen storage disease IV (GSD IV), including a severe foetal akinesia sub-phenotype. Reinvestigating the muscle pathology identified storage material, consistent with GSD IV, which was confirmed biochemically. This study highlights the power of exome sequencing in genetically heterogeneous diseases and adds multiple pterygium syndrome to the phenotypic spectrum of GBE1 mutation. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：165 / 169

页数：5

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