Clinical presentation of patients with neurofibromatosis type 1 in infancy and childhood: Genetic traits and gender effects

Journal of Child Neurology

Volumn 23, Issue 11, 2008, Pages 1282-1287

  Suenobu, So Ichi ^a   Akiyoshi, Kensuke ^a   Maeda, Tomoki ^a   Korematsu, Seigo ^a   Izumi, Tatsuro ^a  

^a OITA UNIVERSITY   (Japan)

Author keywords

Gender effect; Generation passage; Genetic traits; Hyperintense T2 weighted images; Neurofibromatosis type 1

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BASAL GANGLION; BRAIN CORTEX; BRAIN STEM; CAPSULA INTERNA; CEREBELLUM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FATHER; FEMALE; GENETIC TRAIT; HUMAN; MALE; MOTHER; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEX DIFFERENCE;

BRAIN; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; FEMALE; GENES, NEUROFIBROMATOSIS 1; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; NEUROFIBROMATOSIS 1;

EID: 54549110347     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808318539     Document Type: Article

References (25)

1. Gutmann DH, Aylsworth A., Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278:51-57.
2. DeBella K., Szudek J., Friedman JM Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105:608-614.
3. North K. Neurofibromatosis type 1. Am J Med Genet. 2000;97:119-127.
4. NIH Consensus Development Conference Statement. Neurofibromatosis conference statement. Arch Neurol. 1988;45:575-578.
5. Cnossen MH, de Goede-Bolder A., van den Broek KM, et al. A prospective 10 year follow up study of patients with neurofibromatosis type 1. Arch Dis Child. 1998;78:408-412.
6. Waggoner DJ, Towbin J., Gottesman G., Gutmann DH Clinic-based study of plexiform neurofibromas in Neurofibromatosis 1. Am J Med Genet. 2000;91:132-135.
7. Jones KL Smith's Recognizable Patterns of Human Malformation. 6 th ed. Philadelphia, PA: W. B. Saunders; 2006.
8. Gutmann DH Neurofibromin in the brain. J Child Neurol. 2002;17:592-601.
9. Miller M., Hall JG Possible maternal effect on severity of neurofibromatosis. Lancet. 1978;2:1071-1073.
10. Riccardi VM, Wald JS Discounting an adverse maternal effect on severity of Neurofibromatosis. Pediatrics. 1987;79:386-393.
11. North K., Joy P., Yuille D., et al. Specific learning disability in children with neurofibromatosis type 1: Significance of MRI abnormalities. Neurology. 1994;44:878-883.
12. Denckla MB, Hofman K., Mazzocco MM, et al. Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet. 1996;67:98-102.
13. Rosenbaum T., Engelbrecht V., Krölls W., van Dorsten FA, Hoehn-Berlage M., Lenard HG MRI abnormalities in neurofibromatosis type 1 (NF1): A study of men and mice. Brain Dev. 1999;21:268-273.
14. DiMario FJ Jr, Ramsby G. Magnetic resonance imaging lesion analysis in neurofibromatosis type 1. Arch Neurol. 1998;55:500-505.
15. Griffiths PD, Blaser S., Mukonoweshuro W., Armstrong D., Milo-Mason G., Cheung S. Neurofibromatosis bright objects in children with neurofibromatosis type 1: A proliferative potential? Pediatrics. 1999; 104: E49.
16. DeBella K., Poskitt K., Szudek J., Friedman JM Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children. Neurology. 2000;54:1646-1651.
17. Szudek J., Friedman JM Unidentified bright objects associated with features of neurofibromatosis 1. Pediatr Neurol. 2002;27:123-127.
18. Kraut MA, Gerring JP, Cooper KL Thompson RE, Denckla MB, Kaufmann WE Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1. Am J Med Genet. 2004;129:113-119.
19. Singh SM, Archer TK, Rodenhiser DI Site-specific DNA methylation in the neurofibromatosis (NF1) promoter interferes with binding of CREB and SP1 transcription factors. Oncogene. 1999;18:4108-4119.
20. Fishbein L., Eady B., Sanek N., Muir D., Wallace MR Analysis of somatic NF1 promoter methylation in plexiform neurofibromas and Schwann cells. Cancer Genet Cytogenet. 2005;157:181-186.
21. Horan MP, Cooper DN, Upadhyaya M. Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours. Hum Genet. 2000;107:33-39.
22. Hitchins MP, Wong JJ, Suthers G., et al. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med. 2007;356:697-705.
23. Driscoll DJ, Waters MF, Williams CA, et al. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics. 1992;13:917-924.
24. Saitoh S., Buiting K., Rogan PK, et al. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA. 1996;3:7811-7815.
25. Redman JB, Fenwick RG Jr, Fu YH, Pizzuti A., Caskey CT Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA. 1993;269:1960-1965.