NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 1973-1978

  Muram Zborovski, Talia M ^a,b   Vaughn, Cecily P ^c   Viskochil, David H ^a   Hanson, Heather ^a   Mao, Rong ^a,b   Stevenson, David A ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP LABORATORIES   (United States)

^c ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

Author keywords

Genotype phenotype correlation; Legius syndrome; Mosaic; Neurofibromatosis type 1 (NF1); NF1 exon 17; NF1 exon 22; SPRED1

Indexed keywords

ADULT; ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CLINICAL FEATURE; EXON; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MOSAICISM; NEUROFIBROMATOSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SPRED1 GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXONS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PROGNOSIS; SEQUENCE DELETION;

EID: 77955299513     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33525     Document Type: Article

References (19)

1. Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lazaro C. 2003. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet 40:e82.
2. Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. 2007. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39:1120-1126.
3. Consoli C, Moss C, Green S, Balderson D, Cooper DN, Upadhyaya M. 2005. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol 125:463-466.
4. Friedman JM, Birch PH. 1997. Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1, 728 patients. Am J Med Genet 70:138-143.
5. Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF. 2004. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 75:410-423.
6. Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X. 1994. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403-1407.
7. Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L. 2007. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet 81:243-251.
8. Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E. 2009. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 302:2111-2118.
9. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. 2000. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541-555.
10. Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Mao R. 2010. SPRED1 mutations in a neurofibromatosis clinic. J Child Neurol (Feb 22 - Epub ahead of print).
11. Nystrom AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmstrom G, Bondeson ML, Anneren G. 2009a. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. Clin Genet 76:524-534.
12. Nystrom AM, Ekvall S, Stromberg B, Holmstrom G, Thuresson AC, Anneren G, Bondeson ML. 2009b. A severe form of Noonan syndrome and autosomal dominant cafe-au-lait spots - Evidence for different genetic origins. Acta Paediatr 98:693-698.
13. Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. 2009. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet 46:425-430.
14. Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H. 2003. Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations. J Med Genet 40:520-525.
15. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. 2009. SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet 46:431-437.
16. Stevenson DA, Swenson J, Viskochil DH. 2008. Neurofibromatosis type 1 and other syndromes of the Ras pathway. In: Kaufmann D, editor. Neurofibromatoses. Basel: Karger. pp. 32-45.
17. Stevenson DA, Viskochil DH, Rope AF, Carey JC. 2006. Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. Clin Genet 69:246-253.
18. Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. 2007. 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 80:140-151.
19. van der Meulen MA, van der Meulen MJ, te Meerman GJ. 1995. Recurrence risk for germinal mosaics revisited. J Med Genet 32:102-104.