Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome

Nenhuma Miniatura disponível
Citações na Scopus
Tipo de produção
article
Data de publicação
2011
DOI
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY-BLACKWELL
Autores
REIS, Andre F.
KANNENGIESSER, Caroline
JENNANE, Farida
CHEURFA, Nadir
OUDIN, Claire
SAVOLDELLI, Roberta Diaz
OLIVEIRA, Carolina
GRANDCHAMP, Bernard
Citação
PEDIATRIC DIABETES, v.12, n.3, p.187-191, 2011
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Wolcott-Rallison syndrome (WRS, OMIM 226980) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. We described two novel mutations in the EIF2AK3 gene in two consanguineous families with WRS from Brazil and Morocco. We have observed in case 1 a homozygous C > T replacement at base pair c.1192 at exon 7, generating a stop codon at position 398 (Gln398Stop). Both of his parents were found to be heterozygous for the mutation. We detected in both parents of case 2, a deceased Moroccan girl, a duplication of base pair c.851A at exon 5 (c.851dupA) leading to a frameshift and a stop codon at position 285 (p.Pro285AlafsX3). Both cases 1 and 2 had neonatal diabetes mellitus, multiple epiphyseal dysplasia, and growth delay, and presented episodes of acute hepatic dysfunction. Case 1 presented central hypothyroidism, developmental delay, and mild mental retardation. Case 2 presented a fatal episode of acute renal failure. The clinical phenotype associated with the syndrome can be variable, but a combination of infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, and hepatic and/or renal dysfunction is the mainstay of diagnosis.
Palavras-chave
bone dysplasia, diabetes mellitus, EIF2AK3, WRS
URI
https://observatorio.fm.usp.br/handle/OPI/23807
Referências
  1. Brickwood S, 2003, J MED GENET, V40, P685, DOI 10.1136/jmg.40.9.685
  2. Engelmann G, 2008, J INHERIT METAB DIS, V31, P540, DOI 10.1007/s10545-008-0867-0
  3. Stiehm ER, 2008, J IMMUNOTOXICOL, V5, P227, DOI 10.1080/15476910802129646
  4. Harding HP, 2000, MOL CELL, V5, P897, DOI 10.1016/S1097-2765(00)80330-5
  5. Zhang PC, 2002, MOL CELL BIOL, V22, P3864, DOI 10.1128/MCB.22.11.3864-3874.2002
  6. Ozbek MN, 2010, PEDIATR DIABETES, V11, P279, DOI 10.1111/j.1399-5448.2009.00591.x
  7. Thornton CM, 1997, PEDIATR PATHOL LAB M, V17, P487, DOI 10.1080/107710497174778
  8. Castelnau P, 2000, EUR J PEDIATR, V159, P631, DOI 10.1007/PL00008394
  9. Iyer S, 2004, ACTA PAEDIATR, V93, P1195, DOI 10.1080/08035250410029362
  10. Bin-Abbas B, 2002, AM J MED GENET, V111, P187, DOI 10.1002/ajmg.10495
  11. Rubio-Cabezas O, 2009, J CLIN ENDOCR METAB, V94, P4162, DOI 10.1210/jc.2009-1137
  12. Xu CY, 2005, J CLIN INVEST, V115, P2656, DOI 10.1172/JC126373
  13. Adler SM, 2007, ENDOCRIN METAB CLIN, V36, P657, DOI 10.1016/j.ecl.2007.04.007
  14. Senee V, 2004, DIABETES, V53, P1876, DOI 10.2337/diabetes.53.7.1876
  15. Harding HP, 2001, MOL CELL, V7, P1153, DOI 10.1016/S1097-2765(01)00264-7
  16. Biason-Lauber A, 2002, DIABETES, V51, P2301, DOI 10.2337/diabetes.51.7.2301
  17. Delepine M, 2000, NAT GENET, V25, P406
  18. Bin-Abbas B, 2001, ANN SAUDI MED, V21, P73
  19. Durocher F, 2006, CLIN GENET, V70, P34, DOI 10.1111/j.1399-0004.2006.00632.x
  20. Harding HP, 1999, NATURE, V397, P271
  21. JENNANE F, 2005, REV MAR MAL ENF, V5, P41
  22. Marafie MJ, 2004, ANN SAUDI MED, V24, P476
  23. Schroder M, 2005, MUTAT RES-FUND MOL M, V569, P29, DOI 10.1016/j.mrfmmm.2004.06.056
  24. SOVIK O, 2008, J INHERIT METAB DIS, DOI 10.1007/S10545-10008-10866-10541
  25. Wolcott C D, 1972, J Pediatr, V80, P292, DOI 10.1016/S0022-3476(72)80596-1

Coleções
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/15
Artigos e Materiais de Revistas Científicas - LIM/36