A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

Metabolic Brain Disease

Volumn 32, Issue 6, 2017, Pages 2131-2137

  Zehavi, Yoav ^a   von Renesse, Anja ^b   Daniel Spiegel, Etty ^a,c   Sapir, Yonatan ^a   Zalman, Luci ^a   Chervinsky, Ilana ^a   Schuelke, Markus ^b   Straussberg, Rachel ^d   Spiegel, Ronen ^a,c  

^a HAEMEK MEDICAL CENTER   (Israel)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

Author keywords

Autozygosity mapping; Epileptic encephalopathy; Exome sequencing; PIGO gene

Indexed keywords

ALKALINE PHOSPHATASE; CD16 ANTIGEN; CD24 ANTIGEN; CD59 ANTIGEN; CLONAZEPAM; GLYCOSYLPHOSPHATIDYLINOSITOL; GPI ETHANOLAMINE PHOSPHATE TRANSFERASE 3; ISOLEUCINE; LAMOTRIGINE; LEVETIRACETAM; METHIONINE; PHENOBARBITAL; TOPIRAMATE; TRANSFERASE; UNCLASSIFIED DRUG; VALPROIC ACID; MEMBRANE PROTEIN; PIGO PROTEIN, HUMAN;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; ASPIRATION PNEUMONIA; BRAIN DISEASE; CASE REPORT; CELL SURFACE; CHILD; CLINICAL ARTICLE; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; GRANULOCYTE; HOMOZYGOTE; HOSPITALIZATION; HUMAN; HYPERTELORISM; INFANTILE EPILEPTIC ENCEPHALOPATHY; INTRACTABLE EPILEPSY; LOW SET EAR; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PROTEIN EXPRESSION; RESPIRATORY FAILURE; SANGER SEQUENCING; WHOLE EXOME SEQUENCING; BLOOD; BRAIN; DIAGNOSTIC IMAGING; ECHOGRAPHY; GENETICS; INFANT; INFANTILE SPASM; MUTATION;

AGENESIS OF CORPUS CALLOSUM; ALKALINE PHOSPHATASE; BRAIN; CHILD, PRESCHOOL; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MEMBRANE PROTEINS; MUTATION; SPASMS, INFANTILE; ULTRASONOGRAPHY;

EID: 85029156480     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-017-0109-y     Document Type: Article

References (15)

1. 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 promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med 12:846–851
2. Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y (2014) Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet 51:203–207
3. Freeze HH, Eklund EA, Ng BG, Patterson MC (2012) Neurology of inherited glycosylation disorders. Lancet Neurol 11:453–466
4. Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen 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 92:575–583
5. Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P (2011) Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am J Med Genet A 155A:1917–1922
6. Kinoshita T, Fujita M, Maeda Y (2008) Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress. J Biochem (Tokyo) 144:287–294
7. Krawitz PM, Murakami Y, Hecht J, Krüger 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 91:146–151
8. Kuki I, Takahashi Y, Okazaki S, Kawawaki H, Ehara E, Inoue N, Kinoshita T, Murakami Y (2013) Vitamin B6-responsive epilepsy due to inherited GPI deficiency. Neurology 81:1467–1469
9. Li H (2013) Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. http://arxiv.Org/pdf/1303.3997.Pdf. Accessed at Sept 2015
10. Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L (2011) Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet 48:383–389
11. Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H (2014) PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. Epilepsia 55:e13–e17
12. 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 90:685–688
13. Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: Mutation prediction for the deep-sequencing age. Nat Methods 11:361–362
14. Seelow D, Schuelke M (2012) HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing. Nucleic Acids Res 40:W516–W520
15. Xue J, Li H, Zhang Y, Yang Z (2016) Clinical and genetic analysis of two Chinese infants with Mabry syndrome. Brain Dev 38:807–818