Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus

Neurogenetics

Volumn 7, Issue 4, 2006, Pages 259-263

  De Wit, M C Y ^a   De Coo, I F M ^a   Julier, C ^b   Delepine M ^c   Lequin, M H ^a   Van De Laar, I ^a   Sibbles, B J ^a   Bruining, G J ^a   Mancini, G M S ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b INSTITUT PASTEUR   (France)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

EIF2AK3; Insulin dependent diabetes mellitus; Malformation of cortical development; Simplified gyral pattern; Wolcott Rallison syndrome

Indexed keywords

INITIATION FACTOR 2ALPHA KINASE 3; PROTEIN KINASE R; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; BRAIN CORTEX; CASE REPORT; CELL PROLIFERATION; FEMALE; GENE MUTATION; HAND RADIOGRAPHY; HUMAN; HUMAN TISSUE; INSULIN DEPENDENT DIABETES MELLITUS; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PANCREAS ISLET; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME; WOLCOTT RALLISON SYNDROME;

AGE OF ONSET; CEREBRAL CORTEX; DIABETES MELLITUS, TYPE 1; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; OSTEOCHONDRODYSPLASIAS; OSTEOPOROSIS;

EUKARYOTA; STRAWBERRY GREEN PETAL PHYTOPLASMA;

EID: 33750086043     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-006-0061-1     Document Type: Article

References (16)

1. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2005) A developmental and genetic classification for malformations of cortical development. Neurology 65:1873-1887
2. Woods CG, Bond J, Enard W (2005) Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 76:717-728
3. Gloyn AL, Siddiqui J, Ellard S (2006) Mutations in the genes encoding the pancreatic beta-cell Katp channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 27(3):220-231
4. Porter JR, Barrett TG (2005) Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure. J Med Genet 42:893-902
5. Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG (2004) Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. Acta Paediatr 93:1195-1201
6. Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C (2000) EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet 25(4):406-409
7. Biason-Lauber A, Lang-Muritano M, Vaccaro T, Schoenle EJ (2002) Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene. Diabetes 51(7):2301-2305
8. Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ et al (2004) Wolcott-Rallison syndrome. Clinical, genetic and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 53:1876-1883
9. Harding HP, Zhang Y, Bertolotti A, Zeng H, Ron D (2000) Perk is essential for translational regulation and cell survival during the unfolded protein response. Mol Cell 5(5):897-904
10. Zhang P, McGrath B, Li S, Frank A, Zambito F, Reinert J, Gannon M, Ma K, McNaughton K, Cavener DR (2002) The Perk eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas. Mol Cell Biol 22:3864-3874
11. Owen CR, Kumar R, Zhang P, McGrath BC, Cavener DR, Krause GS (2005) PERK is responsible for the increased phosphorylation of eIF2alpha and the severe inhibition of protein synthesis after transient global brain ischemia. J Neurochem 94(5):1235-1242
12. Hao S, Sharp JW, Ross-Inta CM, McDaniel BJ, Anthony TG, Wek RC, Cavener DR, McGrath BC, Rudell JB, Koehnle TJ, Gietzen DW (2006) Uncharged tRNA and sensing of animo acid deficiency in mammalian piriform cortex. Science 307:1776-1778
13. Carnevalli LS, Pereira CM, Jaqueta CB, Alves VS, Paiva VN, Vattem KM, Wek RC, Mello LEAM, Castilho BA (2006) Phosphorylation of the alpha subunit of translation initiation factor 2 by PKR mediates protein synthesis inhibition in the mouse brain during status epilepticus. Biochem J 397(1):187-194
14. Van der Knaap MS, Leegwater PA, Konst AA et al (2002) Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 51:264-270
15. Fogli A, Boespflug-Tanguy O (2006) The large spectrum of eIF2B-related disease. Biochem Soc Trans 34:22-29
16. Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA (2003) Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. J Med Genet 40:685-689