New Mutation of the PTCH Gene in Nevoid Basal-Cell Carcinoma Syndrome With West Syndrome

Pediatric Neurology

Volumn 37, Issue 5, 2007, Pages 363-365

  Tachi, Nobutada ^a   Fujii, Katsunori ^b   Kimura, Mitsugu ^c   Seki, Kouhei ^c   Hirakai, Masahisa ^c   Miyashita, Toshiyuki ^d  

^a SAPPORO MEDICAL UNIVERSITY   (Japan)

^b CHIBA UNIVERSITY   (Japan)

^c Takikawa City Hospital   (Japan)

^d NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PATCHED;

ARTICLE; BASAL CELL NEVUS SYNDROME; CASE REPORT; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; HETEROZYGOTE; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; PREDICTION; PRIORITY JOURNAL; STOP CODON; WEST SYNDROME;

BASAL CELL NEVUS SYNDROME; BRAIN NEOPLASMS; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MALE; MUTATION; RECEPTORS, CELL SURFACE; SPASMS, INFANTILE;

EID: 35348917784     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2007.06.022     Document Type: Article

References (12)

1. Gorlin R.J., and Goltz R.W. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 262 (1960) 908-912
2. Gorlin R.J. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 6 (1987) 98-113
3. Hahn H., Wicking C., Zaphiropoulous P.G., et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85 (1996) 841-851
4. Johnson R.L., Rothman A.L., Xie J., et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272 (1996) 1668-1671
5. Fujii K., Miyashita T., Takanashi J., et al. Gamma-irradiation deregulates cell cycle control and apoptosis in nevoid basal cell carcinoma syndrome-derived cells. Jpn J Cancer Res 90 (1999) 1351-1357
6. Kimonis V.E., Goldstein A.M., Pastakia B., et al. Clinical manifestations 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69 (1997) 299-308
7. Bakaeen G., Rajab L.D., Sawair F.A., Hamdan M.A., and Dallal N.D. Nevoid basal cell carcinoma syndrome: A review of the literature and a report of a case. Int J Paediatr Dent 14 (2004) 279-287
8. Murphy M.J., and Tenser R.B. Nevoid basal cell carcinoma syndrome and epilepsy. Ann Neurol 11 (1982) 372-376
9. Hogan R.E., Tress B., Gonzales M.F., King J.O., and Cook M.J. Epilepsy in the nevoid basal-cell carcinoma syndrome (Gorlin syndrome): Report of a case due to a focal neuronal heterotopia. Neurology 46 (1996) 574-576
10. Sasaki K., Yoshimoto T., Nakao T., et al. A nevoid basal cell carcinoma syndrome with chromosomal aberration [in Japanese. No To Hattatsu 32 (2000) 49-55
11. Juhasz C., Chugani H.T., Muzik O., and Chugani D.C. Neuroradiological assessment of brain structure and function and its implication in the pathogenesis of West syndrome. Brain Dev 23 (2001) 488-495
12. Wicking C., Shanley S., Smyth I., et al. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60 (1997) 21-26