Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

Neurogenetics

Volumn 15, Issue 3, 2014, Pages 193-200

  Nakashima, Mitsuko ^a   Kashii, Hirofumi ^b   Murakami, Yoshiko ^c   Kato, Mitsuhiro ^d   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Kubota, Masaya ^b   Kinoshita, Taroh ^c   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c OSAKA UNIVERSITY   (Japan)

^d YAMAGATA UNIVERSITY   (Japan)

Author keywords

Compound heterozygous mutations; Glycosylphosphatidylinositol anchored protein; Hypophosphatasia; Multiple congenital anomalies hypotonia seizures syndrome 3; PIGT; Whole exome sequencing

Indexed keywords

AMINOTRANSFERASE; CARBAMAZEPINE; CD59 ANTIGEN; CLOBAZAM; GLYCOSYLPHOSPHATIDYLINOSITOL; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; GLYCOSYLPHOSPHATIDYLINOSITOL TRANSAMIDASE COMPLEX; PHENYTOIN; PIGT PROTEIN; PYRIDOXAL 5 PHOSPHATE; UNCLASSIFIED DRUG; VALPROIC ACID; ZONISAMIDE; ACYLTRANSFERASE; COOH-TERMINAL SIGNAL TRANSAMIDASE;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CONGENITAL MALFORMATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME SUBUNIT; FEMALE; GENE CONSTRUCT; GENE MUTATION; GENETIC TRANSFECTION; GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY; GRANULOCYTE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPOPHOSPHATASIA; INBORN ERROR OF METABOLISM; MULTIPLE CONGENITAL ANOMALY HYPOTONIA SEIZURE SYNDROME 3; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; COMPLICATION; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; SYNDROME;

ABNORMALITIES, MULTIPLE; ACYLTRANSFERASES; FEMALE; GLYCOSYLPHOSPHATIDYLINOSITOLS; GRANULOCYTES; HETEROZYGOTE; HUMANS; MUSCLE HYPOTONIA; MUTATION; PEDIGREE; SEIZURES; SYNDROME;

EID: 84904570744     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0408-y     Document Type: Article

References (22)

1. Kinoshita T, Fujita M, Maeda Y (2008) Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. J Biochem 144(3):287-294. doi:10.1093/jb/mvn090
2. Krawitz PM, Schweiger MR, Rodelsperger C, Marcelis C, Kolsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Kohler S, Jager M, Grunhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN (2010) Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 42(10):827-829. doi:10.1038/ng.653
3. Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D (2012) Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet 91(1):146-151. doi:10.1016/j.ajhg.2012.05.004
4. Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nothen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R (2013) Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet 92(4):575-583. doi:10.1016/j.ajhg.2013. 03.008
5. Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kolsch U, Kruger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM (2014) Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am J Hum Genet 94(2):278-287. doi:10.1016/j.ajhg.2013.12.012
6. Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y (2013) Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet. doi:10.1136/jmedgenet-2013-102156
7. Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D (2013) PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet 92(4):584-589. doi:10.1016/j.ajhg.2013.03.011
8. Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A (2006) Hypomorphic promotermutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med 12(7):846-851. doi:10.1038/nm1410 (Pubitemid 44050077)
9. Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH (2012) Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet 90(4):685-688. doi:10.1016/j.ajhg.2012.02.010
10. Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG (2012) The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet 90(2):295-300. doi:10.1016/j.ajhg.2011.11.031
11. Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H (2013) A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood 122(7):1312-1315. doi:10.1182/blood-2013-01-481499
12. Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stodberg T, Makitie O, Anderlid BM, Bryceson YT, Nordenskjold M, Nordgren A (2013) A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet 50(8):521-528. doi:10.1136/jmedgenet-2013-101654
13. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43(5):491-498. doi:10.1038/ng.806
14. Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164. doi:10.1093/nar/gkq603
15. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248-249. doi:10.1038/nmeth0410-248
16. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D (2010) Mutation Taster evaluates disease-causing potential of sequence alterations. Nat Methods 7(8):575-576. doi:10.1038/nmeth0810-575
17. Ohishi K, Inoue N, Kinoshita T (2001) PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8. EMBO J 20(15):4088-4098. doi:10.1093/emboj/20.15.4088 (Pubitemid 32751825)
18. Ashida H, Hong Y, Murakami Y, Shishioh N, Sugimoto N, Kim YU, Maeda Y, Kinoshita T (2005) Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I. Mol Biol Cell 16(3):1439-1448. doi:10.1091/mbc.E04-09-0802 (Pubitemid 40349577)
19. Genomes Project C, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA (2010) A map of human genome variation from population-scale sequencing. Nature 467(7319):1061-1073. doi:10.1038/nature09534
20. Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491(7422):56-65. doi:10.1038/nature11632
21. Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T (2012) Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J Biol Chem 287(9):6318-6325. doi:10.1074/jbc.M111.331090
22. Mornet E (2007) Hypophosphatasia. Orphanet J Rare Dis 2:40. doi:10.1186/1750-1172-2-40