Childhood overgrowth in patients with common NF1 microdeletions

European Journal of Human Genetics

Volumn 13, Issue 7, 2005, Pages 883-888

  Spiegel, Miriam ^a   Oexle, Konrad ^a,b   Horn, Denise ^a   Windt, Elke ^a   Buske, Annegret ^c   Albrecht, Beate ^d   Prott, Eva Christina ^d   Seemanová, Eva ^e   Seidel, Joerg ^f   Rosenbaum, Thorsten ^g   Jenne, Dieter ^h   Kehrer Sawatzki, Hildegard ⁱ   Tinschert, Sigrid ^a,b  

^a HUMBOLDT UNIVERSITY   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c Medizinisches Zentrum Lichtenberg   (Germany)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^f FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^g UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^h MAX PLANCK INSTITUTE OF NEUROBIOLOGY   (Germany)

ⁱ UNIVERSITY OF ULM   (Germany)

Author keywords

NF1 microdeletions; Overgrowth; Weaver syndrome

Indexed keywords

NEUROFIBROMIN;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; BONE AGE; BONE GROWTH; BRAIN AQUEDUCT STENOSIS; BRAIN CYST; BRAIN VENTRICLE DILATATION; CHILD; CHILD GROWTH; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; FACIES; FEMALE; GENE DELETION; GENETIC ANALYSIS; GROWTH ACCELERATION; GROWTH DISORDER; GROWTH RETARDATION; HAPLOTYPE; HUMAN; LATERAL BRAIN VENTRICLE; MALE; NEUROFIBROMATOSIS; PHENOTYPIC VARIATION; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; SEPTUM PELLUCIDUM; SHORT STATURE;

ADOLESCENT; ADULT; BODY HEIGHT; CHILD; CHILD DEVELOPMENT; CHILD, PRESCHOOL; FACE; FEMALE; HUMANS; MALE; MIDDLE AGED; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; REFERENCE VALUES; SEQUENCE DELETION;

EID: 21744446585     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201419     Document Type: Article

References (52)

1. Wilkins L: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence. Springfield, IL: Charles C Thomas, 1950.
2. Carey JC, Laub JM, Hall BD: Penetrance and variability in neurofibromatosis: a genetic study of 60 families. Birth Defects Orig Artic Ser 1979; 15: 271-281.
3. Riccardi VM (edn): Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. Baltimore: Johns Hopkins University Press, 1992.
4. North K: Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. J Child Neurol 1993; 8: 395-402.
5. Huson SM, Hughes RAC (eds): The Neurofibromatoses - A Pathogenetic and Clinical Overview. London: Chapman & Hall, 1994.
6. Carmi D, Shohat M, Metzker A, Dickerman Z: Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study. Pediatrics 1999; 103: 1257-1262.
7. Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R: Neurofibromatosis type 1 growth charts. Am J Med Genet 1999; 87: 317-323.
8. Szudek J, Birch P, Friedman JM: Growth in North American white children with neurofibromatosis 1 (NF1). J Med Genet 2000; 37: 933-938.
9. Virdis R, Street ME, Bandello MA et al: Growth and pubertal disorders in neurofibromatosis type 1. J Pediatr Endocrinol Metab 2003; 16 (Suppl 2): 289-292.
10. Van Asperen CJ, Overweg-Plandsoen WC, Cnossen MH, van Tijn DA, Hennekam RC: Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. J Med Genet 1998; 35: 323-327.
11. Weaver DD, Graham CB, Thomas IT, Smith DW: A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. J Pediatr 1974; 84: 547-552.
12. Douglas J, Hanks S, Temple IK et al: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003; 72: 132-143.
13. Rio M, Clech L, Amiel J et al: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003; 40: 436-440.
14. Turkmen S, Gillessen-Kaesbach G, Meinecke P et al: Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet 2003; 11: 858-865.
15. Ainsworth FJ, Chakraborty PK, Weksberg R: Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion. Hum Mutat 1997; 9: 452-457.
16. Cnossen MH, van der Est MN, Breuning MH et al: Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 1997; 9: 458-464.
17. Kluwe L, Siebert R, Gesk S et al: Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004; 23: 111-116.
18. Jenne DE, Tinschert S, Dorschner MO, Hameister H, Stephens K, Kehrer-Sawatzki H: Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. Genes Chromosomes Cancer 2003; 37: 111-120.
19. Kehrer-Sawatzki H, Kluwe L, Sandig C et al: 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 2004; 75: 410-423.
20. López-Correa C, Brems H, Lazaro C et al: Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat 1999; 14: 387-393.
21. Jenne DE, Tinschert S, Stegmann E et al: A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. Genomics 2000; 66: 93-97.
22. Kayes LM, Riccardi VM, Burke W, Bennett RL, Stephens K: Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet 1992; 29: 686-690.
23. Tinschert S, Naumann I, Stegmann E et al: Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000; 8: 455-459.
24. Jenne DE, Tinschert S, Stegmarm E et al: A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. Genomics 2000; 66: 93-97.
25. Jenne DE, Tinschert S, Reimann H et al: Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 2001; 69: 516-527.
26. Crawford MJ, Buckler JM: Optic gliomata affecting twins with neurofibromatosis. Dev Med Child Neurol 1983; 25: 370-373.
27. Duchowny MS, Katz R, Bejar RL: Hypothalamic mass and gigantism in neurofibromatosis: treatment with bromocriptine. Ann Neurol 1984; 15: 302-304.
28. Manski TJ, Haworth CS, Duval-Arnould BJ, Rushing EJ: Optic pathway glioma infiltrating into somatostatinergic pathways in a young boy with gigantism. Case report. J Neurosurg 1994; 81: 595-600.
29. Fuqua JS, Berkovitz GD: Growth hormone excess in a child with neurofibromatosis type 1 and optic pathway tumor: a patient report. Clin Pediatr (Phila) 1998; 37: 749-752.
30. Drimmie FM, MacLennan AC, Nicoll JA, Simpson E, McNeill E, Donaldson MD: Gigantism due to growth hormone excess in a boy with optic glioma. Clin Endocrinol (Oxf) 2000; 53: 535-538.
31. Korf BR, Schneider G, Poussaint TY: Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions. Genet Med 1999; 1: 136-140.
32. Sachs L: Angewandte Statistik. 8th edn. Berlin: Springer, 1997, p 341.
33. Prader A, Budliger H: Body measurements, growth velocity and bone age of healthy children up to 12 years of age (longitudinal growth study Zurich). Helv Paediatr Acta 1977; 37 (Suppl): 1-44.
34. DiMario Jr FJ, Bowers P, Jagjivan B, Burleson J, Langshur S, Greenstein RM: Analysis of skull anthropometric measurements in patients with neurofibromatosis type-1. Invest Radiol 1993; 28: 116-120.
35. Kaplan P, Rosenblatt B: A distinctive facial appearance in neurofibromatosis von Recklinghausen. Am J Med Genet 1985; 21: 463-470.
36. Leppig KA, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K: Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. Am J Med Genet 1997; 73: 197-204.
37. Valero MC, Pascual-Castroviejo I, Velasco E, Moreno F, Hernandez-Chico C: Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients. Hum Genet 1997; 99: 720-726.
38. López-Correa C, Brems H, Lazaro C, Marynen P, Legius E: Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet 2000; 66: 1969-1974.
39. Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K: NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 2000; 9: 35-46.
40. Venturin M, Guarnieri P, Natacci F et al: Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet 2004; 41: 35-41.
41. Ardinger HH, Hanson JW, Harrod MJ et al: Further delineation of Weaver syndrome. J Pediatr 1986; 108: 228-235.
42. Kayes LM, Burke W, Riccardi VM et al: Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet 1994; 54: 424-436.
43. Wu BL, Austin MA, Schneider GH, Boles RG, Korf BR: Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. Am J Med Genet 1995; 59: 528-535.
44. Colley A, Donnai D, Evans DG: Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet 1996; 49: 59-64.
45. Leppig KA, Viskochil D, Neil S et al: The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. Cytogenet Cell Genet 1996; 72: 95-98.
46. Upadhyaya M, Roberts SH, Maynard J et al: A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. J Med Genet 1996; 33: 148-152.
47. Tonsgard JH, Yelavarthi KK, Cushner S, Short MP, Lindgren V: Do NF1 gene deletions result in a characteristic phenotype? Am J Med Genet 1997; 73: 80-86.
48. Riva P, Corrado L, Natacci F et al: NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 2000; 66: 100-109.
49. Whitley P, Gibbard AM, Koumanov F et al: Identification of centaurin-alpha2: a phosphatidylinositide-binding protein present in fat, heart and skeletal muscle. Eur J Cell Biol 2002; 81: 222-230.
50. Hanck T, Stricker R, Sedehizade F, Reiser G: Identification of gene structure and subcellular localization of human centaurin alpha 2, and p42IP4, a family of two highly homologous, Ins 1,3,4,5P4-/PtdIns 3,4,5-P3-binding, adapter proteins. J Neurochem 2004; 88: 326-336.
51. Cao R, Zhang Y: SUZ12 is required for both the histone methyltransferase activity and the silencing function of the EED-EZH2 complex. Mol Cell 2004; 15: 57-67.
52. Pasini D, Bracken AF, Jensen MR, Denchi EL, Helin K: Suz12 is essential for mouse development and for EZH2 histone methyltransferaseactivity. EMBO J 2004; 23: 4061-4071.