Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature

Congenital Anomalies

Volumn 49, Issue 1, 2009, Pages 8-14

  Yamamoto, Kayono ^a,b   Yoshihashi, Hiroshi ^b   Furuya, Noritaka ^b   Adachi, Masanori ^b   Ito, Susumu ^b   Tanaka, Yukichi ^b   Masuno, Mitsuo ^b   Chiyo, Hideaki ^a   Kurosawa, Kenji ^b  

^a OCHANOMIZU UNIVERSITY   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Basal cell nevus syndrome; Chromosome deletion syndrome; FISH; Gorlin syndrome; PTCH1

Indexed keywords

PROTEIN PATCHED 1;

ADULT; ANAMNESIS; ARTICLE; BASAL CELL NEVUS SYNDROME; CASE REPORT; CHILD; CHROMOSOME 9Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; HUMAN; MALE; PRIORITY JOURNAL; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADULT; BASAL CELL NEVUS SYNDROME; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 9; DEVELOPMENTAL DISABILITIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

BACTERIA (MICROORGANISMS);

EID: 60349111478     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/j.1741-4520.2008.00212.x     Document Type: Article

References (24)

1. Boonen SE, Stahl D, Kreiborg S et al. (2005) Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet 132A : 324 328.
2. Chen C-P, Lin S-P, Wang T-H, Chen W-J, Chen M, Wang W (2006) Perinatal findings and molecular cytogenetic analysis of de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome. Prenat Diagn 26 : 725 729.
3. Evans DGR, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM (1991) The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 64 : 959 961.
4. Farndon F (2005) Gorlin syndrome (Nevoid basal cell carcinoma syndrome). In : Cassidy SB, Allanson JE (eds). Management of Genetic Syndromes, 2nd edn. Wiley-Liss, Hoboken, NJ, pp. 265 278.
5. Farrell SA, Siegel-Bartelt J, Teshima I (1991) Patients with deletions of 9q22q34 do not define a syndrome: Three case reports and a literature review. Clin Genet 40 : 207 214.
6. Fujii K, Ishikawa S, Uchikawa H et al. (2007) High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. Hum Genet 122 : 459 466.
7. Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: A syndrome. New Engl J Med 262 : 908 912.
8. Hahn H, Wicking C, Zaphiropulos PG et al. (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85 : 841 851.
9. Haniffa MA, Leech NS, Lynch LSA, Simpson NB (2004) NBCCS secondary to an interstitial chromosome 9q deletion. Clin Exp Dermatol 29 : 542 544.
10. Johnson RL, Rothman AL, Xie J et al. (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272 : 1668 1671.
11. Kimonis VE, Goldstein AM, Pastakia B et al. (1997) Clinical manifestations in 105 persona with nevoid basal cell carcinoma syndrome. Am J Med Genet 69 : 299 308.
12. Kroes HY, Tuerlings JHAM, Hordijk R, Folkers NRP, ten Kate LP (1994) Another patient with an interstitial deletion of chromosome 9: Case report and a review of six cases with del(9)(q22q32). J Med Genet 31 : 156 158.
13. Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG (2006) PTCH mutations: Distribution and analyses. Hum Mutat 27 : 215 219.
14. Midro AT, Panasiuk B, Tümer Z et al. (2004) Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of nail-patella syndrome. Am J Med Genet 124A : 179 191.
15. Nowakowska B, Kutkowska-Kazmierczak A, Stankiewicz P et al. (2007) A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet 143A : 1885 1889.
16. Olivieri C, Maraschio P, Caselli D et al. (2003) Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr 162 : 100 103.
17. Redon R, Baujat G, Sanlaville D et al. (2006) Interstitial 9q22.3 microdeletion: Clinical and molecular characterization of a new recognized overgrowth syndrome. Eur J Hum Genet 14 : 759 767.
18. Robb LJ, Vekemans M, Richter A, Meagher-Villemure K, Neilsen K, der Kaloustian VM (1991) Interstitial deletion of the long arm of chromosome 9. Am J Hum Genet 49 : 174.
19. Sasaki K, Yoshimoto T, Nakao T et al. (2000) A nevoid basal cell carcinoma syndrome with chromosomal aberration. No to Hattatsu 32 : 49 55.
20. Shaffer LG, Tommerup N (2005) ISCN 2005: An International System for Human Cytogenetic Nomenclature. S. Karger, Basel.
21. Shimkets R, Gailani MR, Siu VM et al. (1996) Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. Am J Hum Genet 59 : 417 422.
22. Soufir N, Gerard B, Portela M et al. (2006) PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: A French study. Br J Cancer 95 : 548 553.
23. Wicking C, Shanley S, Smyth I et al. (1997) Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of PATCHED protein and no genotype-phenotype correlations are evident. Am J Hum Genet 60 : 21 26.
24. Ying KL, Curry CJR, Rajani KB, Kassal SH, Sparkes RS (1982) De novo interstitial deletion in the long arm of chromosome 9: A new chromosome syndrome. J Med Genet 19 : 68 76.