Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 12, 2008, Pages 4941-4947

  Damaj, L ^a,d   Ie Lorch, M ^a   Verkarre, V ^a   Werl, C ^a   Hubert, L ^a,b   Nihoul Fekete C ^a   Aigrain, Y ^a   De Keyzer, Y ^a,b   Romana, S P ^a   Bellanne Chantelot, C ^c   De Lonlay, P ^a,b   Jaubert, F ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d RENNES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2;

ABCC8 GENE; ALLELE; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOME 11; CHROMOSOME 11P; CHROMOSOME 13; CONTROLLED STUDY; DIPLOIDY; DNA EXTRACTION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; MICROSATELLITE MARKER; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

EID: 57349131667     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0673     Document Type: Article

References (24)

1. Delonlay P, Galmiche-Rolland L, Giurgea I, Verkarre V, Aigrain Y, Santiago-Ribeiro MJ, Polak M, Robert JJ, Bellanne-Chantelot C, Brunelle F, Nihoul-Fekete C, Jaubert F 2007 Neonatal hyperinsulinism: clinicopathologic correlation. Hum Pathol 38:387-399
2. Verkarre V, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C 1998 Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 102:1286-1291
3. Shuman C, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R 2006 Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. Am J Med Genet A 140:1497-1503
4. Kassem SA, Thornton PS, Hussain K, Smith V, Lindley KJ, Aynsley-Green A, Glaser B 2001 p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy. Diabetes 50:2763-2769
5. Giurgea I, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P 2006 Molecular mechanisms of neonatal hyperinsulinism. Horm Res 66:289-296
6. Fournet JC, de Lonlay P, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C 1998 Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia. Ann Endocrinol (Paris) 59:485-491
7. Giurgea I, Ribeiro MJ, Boddaert N, Touati G, Robert JJ, Saudubray JM, Jaubert F, Bellanne-Chantelot C, Brunelle F, Nihoul-Fekete C, de Lonlay P 2005 [Congenital hyperinsulinism in newborn and infant]. Arch Pediatr 12:1628-1635 (French)
8. Murakami I, Gogusev J, Fournet JC, Glorion C, Jaubert F 2002 Detection of molecular cytogenetic aberrations in Langerhans cell histiocytosis of bone. Hum Pathol 33:555-560
9. Itoh N, Reeve AE, Morison IM 2000 Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-Beckwith syndrome. Am J Med Genet 15:111-116
10. Grati FR, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G 2007 Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 44:257-263
11. Cooper WN, Macdonald F, Maher ER 2007 Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics 89:613-617
12. Giurgea I, Fournet JC, Sempoux C, Bellanné-Chantelot C, Touati G, Hubert L, Groos MS, Brunelle F, Rahier J, Henquin JC, Dunne MJ, Jaubert F, Robert JJ, Nihoul-Fékété C, Vekemans M, Junien C, de Lonlay P 2006 Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet 43:248-254
13. Hussain K, Smith VV, Ashworth M, Day M, Pierro A, Ellard S 2008 An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes 57:259-260
14. Shield JP, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S 2008 Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Diabetes 57:255-258
15. Kratz CP, Niemeyer CM, Schlegelberger B, Koscielniak E, Kontny U, Zenker M 2007 Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome. Hum Mol Genet [Erratum (2007) 16:2781] 16:374-379
16. Nielaender IM, Wagner F, Martínez-Climent JA, Siebert R 2006 Partial uniparental disomy: a recurrent genetic mechanism alternative to chromosomal deletion in malignant lymphoma. Leukemia 20:904-905
17. Stark JM 2003 Extensive loss of heterozygosity is suppressed during homologous repair of chromosomal breaks. Mol Cell Biol 23:733-743
18. Russo S, Recalcati MP, Ferraiuolo S, Cogliati F, Dalla Bernardina B, Tibiletti MG, Agosti M, Sala M, Bonati MT, Larizza L 2006 Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region. J Med Genet 43:e39
19. Mathew P, Bowman LC, Rowe ST, Nash MB, Valentine VA, Cohn SL, Castleberry RP, Brodeur GM, Look AT 2001 Detection of MYCN gene amplification in neuroblastoma by fluorescence in situ hybridization: a pediatric oncology group study. Neoplasia 3:105-109
20. Sempoux C, Dahan K, Moulin P, Stevens M, Lambot V, de Lonlay P, Fournet JC, Junien C, Jaubert F, Nihoul-Fekete C, Saudubray JM, Rahier J 2003 The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes 52:784-794
21. Ward JO, Motley WW, Niswander LM, Deacon DC, Griffin LB, Langlais KK, Backus VL, Schimenti KJ, O'Brien MJ, Eppig JJ, Schimenti JC 2007 Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over. PLoS Genet 3:e139
22. Terasawa M, Tsukamoto Y, Shinohara M, Shirahige K, Kleckner N, Ogawa T 2007 Meiotic recombination-related DNA synthesis and its implications for cross-over and non-cross-over recombinant formation. Proc Natl Acad Sci USA 104:5965-5970
23. Cromie GA 2007 Branching out: meiotic recombination and its regulation. Trends Cell Biol 17:448-455
24. Spence JR, Wells JM 2007 Translational embryology: using embryonic principles to generate pancreatic endocrine cells from embryonic stem cells. Dev Dyn 236:3218-3227