Journal article
Mutations in PIGY: Expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
B Ilkovski, AT Pagnamenta, GL O'Grady, T Kinoshita, MF Howard, M Lek, B Thomas, A Turner, J Christodoulou, D Sillence, SJL Knight, N Popitsch, DA Keays, C Anzilotti, A Goriely, LB Waddel, F Brilot, KN North, N Kanzawa, DG Macarthur Show all
Human Molecular Genetics | Published : 2015
DOI: 10.1093/hmg/ddv331
Abstract
Glycosylphosphatidylinositol (GPI)-anchored proteins are ubiquitously expressed in the human body and are important for various functions at the cell surface. Mutations in many GPI biosynthesis genes have been described to date in patients with multi-system disease and together these constitute a subtype of congenital disorders of glycosylation. We used whole exome sequencing in two families to investigate the genetic basis of disease and used RNA and cellular studies to investigate the functional consequences of sequence variants in the PIGY gene. Two families with different phenotypes had homozygous recessive sequence variants in the GPI biosynthesis gene PIGY. Two sisters with c.137T>C (p..
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Awarded by UK Research and Innovation
Funding Acknowledgements
This work was supported by the National Health & Medical Research Council of Australia (APP571287-KN, NC, APP1035828-NC and APP1022707-KN, NC) and National Institute for Health Research (NIHR) Biomedical Research Centre Oxford with funding from the Department of Health's NIHR Biomedical Research Centres funding scheme. We thank the High-Throughput Genomics Group at the Wellcome Trust Centre for Human Genetics (funded by Wellcome Trust grant reference 090532/Z/09/Z and Medical Research Council Hub grant G0900747 91070) for generating the sequencing data. Funding to pay the Open Access publication charges for this article was provided by the Wellcome Trust.