期刊
NEUROMUSCULAR DISORDERS
卷 23, 期 2, 页码 165-169出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2012.11.005
关键词
Pterygia; Whole exome sequencing; Glycogen storage disease; GBE1; Foetal akinesia
资金
- National Health and Medical Research Council of Australia [1035955, APP1002147, APP1022707]
- Association Francaise contre les Myopathies [15734]
- UWA Collaborative Research Award
- Western Australian Department of Health, Medical and Health Research Infrastructure Fund
- University Postgraduate Awards
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.
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