KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis

Imagem de Miniatura
Arquivos
art_MALAQUIAS_KRAS_gene_mutations_in_Noonan_syndrome_familial_cases_2012_eng.pdf (162.08 KB)
Citações na Scopus
13
Tipo de produção
article
Data de publicação
2012
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY-BLACKWELL
Autores
BRASIL, Amanda S.
Citação
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.158A, n.5, p.1178-1184, 2012
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental disorders caused by mutations in genes of the RAS/MAPK pathway. Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis. Recently, the first familial case with a novel KRAS mutation was described. We report on a second vertical transmission (a mother and two siblings) with a novel mutation (p.M72L), in which the proband has trigonocephaly and the affected mother and sister, prominent ectodermal involvement. Metopic suture involvement has not been described before, expanding the main different cranial sutures which can be affected in NS and KRAS gene mutations. The gene alteration found in the studied family is in close proximity to the one reported in the other familial case (close to the switch II region of the G-domain), suggesting that this specific region of the gene could have less severe effects on intellectual ability than the other KRAS gene mutations found in NS patients and be less likely to hamper reproductive fitness. (c) 2012 Wiley Periodicals, Inc.
Palavras-chave
Noonan syndrome, KRAS gene mutation, craniosynostosis, ectodermal findings, trigonocephaly
URI
https://observatorio.fm.usp.br/handle/OPI/259
Referências
  1. Bertola DR, 2007, J HUM GENET, V52, P521, DOI 10.1007/s10038-007-0146-1
  2. Carta C, 2006, AM J HUM GENET, V79, P129, DOI 10.1086/504394
  3. Cirstea IC, 2010, NAT GENET, V42, P27, DOI 10.1038/ng.497
  4. Cordeddu V, 2009, NAT GENET, V41, P1022, DOI 10.1038/ng.425
  5. Elalaoui SC, 2010, AM J MED GENET A, V152A, P2850, DOI 10.1002/ajmg.a.33685
  6. Forbes SA, 2011, NUCLEIC ACIDS RES, V39, pD945, DOI 10.1093/nar/gkq929
  7. Frazer KA, 2004, NUCLEIC ACIDS RES, V32, pW273, DOI 10.1093/nar/gkh458
  8. Girisha KM, 2010, AM J MED GENET A, V152A, P2861, DOI 10.1002/ajmg.a.33687
  9. Gremer L, 2011, HUM MUTAT, V32, P33, DOI 10.1002/humu.21377
  10. Gripp KW, 2005, AM J MED GENET C, V137C, P72, DOI 10.1002/ajmg.c.30065
  11. Gripp KW, 2006, AM J MED GENET A, V140A, P2163, DOI 10.1002/ajmg.a.31456
  12. Jancik S, 2010, J BIOMED BIOTECHNOL, DOI 10.1155/2010/150960
  13. Ko JM, 2008, J HUM GENET, V53, P999, DOI 10.1007/s10038-008-0343-6
  14. Kratz CP, 2009, AM J MED GENET A, V149A, P1036, DOI 10.1002/ajmg.a.32786
  15. Leventopoulos G, 2010, CLIN EXP RHEUMATOL, V28, P556
  16. Lin JL, 2008, EUR J PEDIATR, V168, P919
  17. Martinelli S, 2010, AM J HUM GENET, V87, P250, DOI 10.1016/j.ajhg.2010.06.015
  18. Nava C, 2007, J MED GENET, V44, P763, DOI 10.1136/jmg.2007.050450
  19. Ng MHL, 2003, BRIT J HAEMATOL, V123, P637, DOI 10.1046/j.1365-2141.2003.04664.x
  20. Ng PC, 2002, GENOME RES, V12, P436, DOI 10.1101/gr/212802
  21. Niihori T, 2006, NAT GENET, V38, P294, DOI 10.1038/ng1749
  22. Nystrom AM, 2008, J MED GENET, V45, P500, DOI 10.1136/jmg.2008.057653
  23. Ramensky V, 2002, NUCLEIC ACIDS RES, V30, P3894, DOI 10.1093/nar/gkf493
  24. Romano AA, 2010, PEDIATRICS, V126, P746, DOI 10.1542/peds.2009-3207
  25. Sarkozy A, 2009, HUM MUTAT, V30, P695, DOI 10.1002/humu.20955
  26. Schubbert S, 2006, NAT GENET, V38, P331, DOI 10.1038/ng1748
  27. Shukla V, 2007, NAT GENET, V39, P1145, DOI 10.1038/ng2096
  28. Sol-Church K, 2009, AM J MED GENET A, V149A, P315, DOI 10.1002/ajmg.a.32639
  29. Sovik O, 2007, J MED GENET, V44, DOI 10.1136/jmg.2007.049361
  30. Stark Z, 2012, CLIN GENET, V81, P590, DOI 10.1111/j.1399-0004.2011.01754.x
  31. Tartaglia M, 2011, BEST PRACT RES CL EN, V25, P161, DOI 10.1016/j.beem.2010.09.002
  32. Tartaglia M, 2010, Mol Syndromol, V1, P2, DOI 10.1159/000276766
  33. Wilkie AOM, 2006, AM J MED GENET A, V140A, P2631, DOI 10.1002/ajmg.a.31366
  34. Zenker M, 2007, J MED GENET, V44, P131, DOI 10.1136/jmg.2006.046300

Coleções
Artigos e Materiais de Revistas Científicas - FM/MCP
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - LIM/13
Carregar mais