Mutations in PIGY: Expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Human Molecular Genetics

Volumn 24, Issue 21, 2015, Pages 6146-6159

  Ilkovski, Biljana ^a   Pagnamenta, Alistair T ^b   O'Grady, Gina L ^a,d   Kinoshita, Taroh ^e   Howard, Malcolm F ^b   Lek, Monkol ^f,g   Thomas, Brett ^f,g   Turner, Anne ^h   Christodoulou, John ^a   Sillence, David ^a   Knight, Samantha J L ^b   Popitsch, Niko ^b   Keays, David A ⁱ   Anzilotti, Consuelo ^c   Goriely, Anne ^j   Waddel, Leigh B ^a,d   Brilot, Fabienne ^a,d   North, Kathryn N ^a,d,k   Kanzawa, Noriyuki ^e   Macarthur, Daniel G ^f,g   Taylor, Jenny C ^b   Kini, Usha ^l   Murakami, Yoshiko ^e   Clarke, Nigel F ^a,d   more..

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF SYDNEY   (Australia)

^e OSAKA UNIVERSITY   (Japan)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^h SYDNEY CHILDREN'S HOSPITAL   (Australia)

ⁱ RESEARCH INSTITUTE OF MOLECULAR PATHOLOGY   (Austria)

^j UNIVERSITY OF OXFORD   (United Kingdom)

^k ROYAL CHILDREN'S HOSPITAL   (Australia)

^l OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD59 ANTIGEN; DECAY ACCELERATING FACTOR; GLYCOSYLPHOSPHATIDYLINOSITOL; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; LEUCINE; PROLINE; RNA; MEMBRANE PROTEIN; PIGY PROTEIN, HUMAN;

5' UNTRANSLATED REGION; ARTICLE; BINDING SITE; CASE REPORT; CATARACT; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEATH; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; MALE; MICROCEPHALY; PHENOTYPIC VARIATION; PIGY GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SEIZURE; SIBLING; SKIN FIBROBLAST; WHOLE EXOME SEQUENCING; BIOSYNTHESIS; DEFICIENCY; DNA MUTATIONAL ANALYSIS; GENETIC TRANSFECTION; GENETICS; MUTATION; NEWBORN; PHENOTYPE; TUMOR CELL LINE;

ANTIGENS, CD55; ANTIGENS, CD59; CELL LINE, TUMOR; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; TRANSFECTION;

EID: 84949254878     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv331     Document Type: Article

References (26)

1. Kinoshita, T., Fujita, M. and Maeda, Y. (2008) Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. J. Biochem., 144, 287-294.
2. Murakami, Y., Siripanyaphinyo, U., Hong, Y., Tashima, Y., Maeda, Y. and Kinoshita, T. (2005) The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. Mol. Biol. Cell., 16, 5236-5246.
3. Takeda, J., Miyata, T., Kawagoe, K., Iida, Y., Endo, Y., Fujita, T., Takahashi, M., Kitani, T. and Kinoshita, T. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell, 73, 703-711.
4. Almeida, A.M., Murakami, Y., Layton, D.M., Hillmen, P., Sellick, G.S., Maeda, Y., Richards, S., Patterson, S., Kotsianidis, I., Mollica, L. et al. (2006) Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat. Med., 12, 846-851.
5. Ng, B.G., Hackmann, K., Jones, M.A., Eroshkin, A.M., He, P., Wiliams, R., Bhide, S., Cantagrel, V., Gleeson, J.G., Paller, A.S. et al. (2012) Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am. J. Hum. Genet., 90, 685-688.
6. Maydan, G., Noyman, I., Har-Zahav, A., Neriah, Z.B., Pasmanik- Chor, M., Yeheskel, A., Albin-Kaplanski, A., Maya, I., Magal, N., Birk, E. et al. (2011) Multiple congenital anomalies- hypotonia-seizures syndrome is caused by a mutation in PIGN. J. Med. Genet., 48, 383-389.
7. Krawitz, P.M., Murakami, Y., Hecht, J., Krüger, U., Holder, S.E., Mortier, G.R., Delle Chiaie, B., De Baere, E., Thompson, M.D., Roscioli, T. et al. (2012) Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am. J. Hum. Genet., 91, 146-151.
8. Kvarnung, M., Nilsson, D., Lindstrand, A., Korenke, G.C., Chiang, S.C., Blennow, E., Bergmann, M., Stödberg, T., Mäkitie, O., Anderlid, B.M. et al. (2013) A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J. Med. Genet., 50, 521-528.
9. Horn, D., Wieczorek, D., Metcalfe, K., Barić, I., Paležac, L., Cuk, M., PetkovićRamadža, D., Krüger, U., Demuth, S., Heinritz, W. et al. (2014) Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Eur. J. Hum. Genet., 22, 762-767.
10. Chiyonobu, T., Inoue, N., Morimoto, M., Kinoshita, T. and Murakami, Y. (2014) Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated withWest syndrome and hyperphosphatasia with mental retardation syndrome. J. Med. Genet., 51, 203-207.
11. Martin, H.C., Kim, G.E., Pagnamenta, A.T., Murakami, Y., Carvill, G.L., Meyer, E., Copley, R.R., Rimmer, A., Barcia, G., Fleming, M.R. et al. (2014) Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum. Mol. Genet., 23, 3200-3211.
12. Johnston, J.J., Gropman, A.L., Sapp, J.C., Teer, J.K., Martin, J.M., Liu, C.F., Yuan, X., Ye, Z., Cheng, L., Brodsky, R.A. and Biesecker, L.G. (2012) The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am. J. Hum. Genet., 90, 295-300.
13. Sutherland, D.R., Kuek, N., Davidson, J., Barth, D., Chang, H., Yeo, E., Bamford, S., Chin-Yee, I. and Keeney, M. (2007) Diagnosing PNH with FLAER and multiparameter flow cytometry. Cytometry B. Clin. Cytom., 72, 167-177.
14. Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S. and Sunyaev, S.R. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
15. 1000 Genomes Project ConsortiumAbecasis, G.R., Auton, A., Brooks, L.D., DePristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T. and McVean, G.A. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491, 56-65.
16. Tennessen, J.A., Bigham, A.W., O'Connor, T.D., Fu, W., Kenny, E.E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G. et al. (2012) Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science, 337, 64-69.
17. Takebe, Y., Seiki, M., Fujisawa, J., Hoy, P., Yokota, K., Arai, K., Yoshida, M. and Arai, N. (1988) SR alpha promoter: an efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the RU5 segment of human T-cell leukemia virus type 1 long terminal repeat. Mol. Cell Biol., 8, 466-472.
18. Rohlin, A., Wernersson, J., Engwall, Y., Wiklund, L., Bjork, J. and Nordling, M. (2009) Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum. Mutat., 30, 1012-1020.
19. Kuki, I., Takahashi, Y., Okazaki, S., Kawawaki, H., Ehara, E., Inoue, N., Kinoshita, T. and Murakami, Y. (2013) Vitamin B6-responsive epilepsy due to inherited GPI deficiency. Neurology, 81, 1467-1469.
20. Almeida, A.M., Murakami, Y., Baker, A., Maeda, Y., Roberts, I. A., Kinoshita, T., Layton, D.M. and Karadimitris, A. (2007) Targeted therapy for inherited GPI deficiency. N. Engl. J. Med., 356, 1641-1647.
21. Kanzawa, N., Shimozawa, N., Wanders, R.J., Ikeda, K., Murakami, Y., Waterham, H.R., Mukai, S., Fujita, M., Maeda, Y., Taguchi, R. et al. (2012) Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. J. Lipid. Res., 53, 653-663.
22. ENCODE Project Consortium, Collaborators (594). (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57-74.
23. Menezes, M.P., Waddell, L., Lenk, G.M., Kaur, S., MacArthur, D. G., Meisler, M.H. and Clarke, N.F. (2014) Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul. Disord., 24, 666-670.
24. Howard, M.F., Murakami, Y., Pagnamenta, A.T., Daumer- Haas, C., Fischer, B., Hecht, J., Keays, D.A., Knight, S.J., Kölsch, U., Krüger, U. et al. (2014) Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am. J. Hum. Genet., 94, 278-287.
25. Canitano, A., Venturi, G., Borghi, M., Ammendolia, M.G. and Fais, S. (2013) Exosomes released in vitro from Epstein-Barr virus (EBV)-infected cells contain EBV-encoded latent phase mRNAs. Cancer Lett., 337, 193-199.
26. Kanzawa, N., Maeda, Y., Ogiso, H., Murakami, Y., Taguchi, R. and Kinoshita, T. (2009) Peroxisome dependency of alkyl-containing GPI-anchor biosynthesis in the endoplasmic reticulum. Proc. Natl. Acad. Sci. USA, 106, 17711-17716.