A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - Evidence for different genetic origins

Acta Paediatrica, International Journal of Paediatrics

Volumn 98, Issue 4, 2009, Pages 693-698

  Nyström, Anna Maja ^a   Ekvall, Sara ^a   Strömberg, Bo ^a   Holmström, Gerd ^a   Thuresson, Ann Charlotte ^a   Annerén, Göran ^a   Bondeson, Marie Louise ^a  

^a UPPSALA UNIVERSITY   (Sweden)

Author keywords

Caf au lait spots; Mutation; NF1; Noonan syndrome; PTPN11

Indexed keywords

NEUROFIBROMIN; PROTEIN SPRED1; PROTEIN SPRED2; PROTEIN TYROSINE PHOSPHATASE SHP 2; SPROUTY PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARNOLD CHIARI MALFORMATION; ARTICLE; CAFE AU LAIT SPOT; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MUTATIONAL ANALYSIS; NOONAN SYNDROME; PRIORITY JOURNAL;

ADULT; CAFE-AU-LAIT SPOTS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENES, NEUROFIBROMATOSIS 1; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE (GENETICS); MEMBRANE PROTEINS; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; REPRESSOR PROTEINS; YOUNG ADULT;

EID: 61849107166     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.01170.x     Document Type: Article

References (27)

1. Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007 7 : 295 308.
2. Allanson JE. Noonan syndrome. J Med Genet 1987 24 : 9 13.
3. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007 39 : 1013 17.
4. Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007 39 : 1007 12.
5. Nystrom AM, Ekvall S, Berglund E, Bjorkqvist M, Braathen G, Duchen K, et al. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J Med Genet 2008 45 : 500 6.
6. Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 2007 44 : 763 71.
7. McClatchey AI. Neurofibromatosis. Annu Rev Pathol 2007 2 : 191 216.
8. Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 2007 80 : 140 51.
9. De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, et al. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet 2005 77 : 1092 101.
10. Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 2007 39 : 1120 6.
11. Felton K, Gilchrist D, Andrew S. Constitutive deficiency in DNA mismatch repair. Clin Genet 2007 71 : 483 98.
12. Hoo JJ, Shrimpton AE. Familial hyper- and hypopigmentation with age-related pattern change. Am J Med Genet A 2005 132 : 215 18.
13. Abeliovich D, Gelman-Kohan Z, Silverstein S, Lerer I, Chemke J, Merin S, et al. Familial cafe au lait spots: a variant of neurofibromatosis type 1. J Med Genet 1995 32 : 985 6.
14. Mantripragada KK, Thuresson AC, Piotrowski A, Diaz de Stahl T, Menzel U, Grigelionis G, et al. Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet 2006 43 : 28 38.
15. Lee JS, Tartaglia M, Gelb BD, Fridrich K, Sachs S, Stratakis CA, et al. Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet 2005 42 : e11
16. Jafarov T, Ferimazova N, Reichenberger E. Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Clin Genet 2005 68 : 190 1.
17. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002 70 : 1555 63.
18. Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004 144 : 368 74.
19. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007 44 : 81 8.
20. Bundschu K, Walter U, Schuh K. Getting a first clue about SPRED functions. Bioessays 2007 29 : 897 907.
21. Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, et al. Clinical and molecular characterization of 40 patients with Noonan syndrome. Eur J Med Genet 2008 51 : 566 72.
22. Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, et al. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. Am J Med Genet 1998 75 : 265 72.
23. Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, et al. Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A 2005 136 : 242 5.
24. Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet 2003 40 : e82.
25. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002 30 : 3894 900.
26. Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 2005 21 : 3176 8.
27. Araki T, Mohi MG, Ismat FA, Bronson RT, Williams IR, Kutok JL, et al. Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med 2004 10 : 849 57.