Gorlin syndrome: The PTCH gene links ocular developmental defects and tumour formation

British Journal of Ophthalmology

Volumn 89, Issue 8, 2005, Pages 988-991

  Ragge, Nicola K ^a,b,c,f   Salt, A ^a,d   Collin, J R O ^a   Michalski, A ^d   Farndon, P A ^e  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; PROTEIN PATCHED;

ARTICLE; BASAL CELL NEVUS SYNDROME; CARCINOGENESIS; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CLINICAL FEATURE; CYTOLOGY; EXON; EYE MALFORMATION; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; HUMAN CELL; HUMAN TISSUE; MEDULLOBLASTOMA; MICROPHTHALMIA; NEUROECTODERM TUMOR; ORBIT CYST; PRIORITY JOURNAL;

BASAL CELL NEVUS SYNDROME; BASE SEQUENCE; CEREBELLAR NEOPLASMS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MEDULLOBLASTOMA; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; RECEPTORS, CELL SURFACE; SEQUENCE DELETION;

EID: 23144461651     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2004.061390     Document Type: Article

References (30)

1. Ravine D, Ragge NK, Stephens D, et al. Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft-lip/palate. Am J Med Genet 1997;72:227-36.
2. Ragge NK, Ravine D, Wilkie AOM. Dominant inheritance of optic pits. Am J Ophthalmol 1998;125:124.
3. McLean CJ, Ragge NK, Jones RB, et al. The management of orbital cysts associated with congenital microphthalmos and anophthalmos. Br J Ophthalmol 2003;87:860-3.
4. McLean JR, Boswell R, O'Donnell J. Cloning and molecular characterization of a metabolic gene with development functions in Drosophila. I. Analysis of the head function of Punch. Genetics 1990;126:1007-19.
5. Schimmenti LA, de la Cruz J, Lewis RA, et al. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet 2003;116A:215-21.
6. Dubourg C, Lazaro L, Pasquier L, et al. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. Hum Mutat 2004;24:43-51.
7. Leatherbarrow B, Kwartz J, Noble JL. Microphthalmos with cyst in monozygous twins. J Pediatr Ophthalmol Strabismus 1990;27:294-8.
8. Porges Y, Gershoni-Baruch R, Leibu R, et al. Hereditary microphthalmia with colobomatous cyst. Am J Ophthalmol 1992;114:30-4.
9. Lehman DM, Sponsel WE, Stratton RF, et al. Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet 2001;101:114-19.
10. Bar-Yosef U, Abuelaish I, Harel T, et al. CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds. Hum Genet 2004.
11. Gorlin R, Goltz R. Multiple nevoid basal cell epithelioma, jaw cysts and bifid rib: a syndrome. N Engl J Med 1960;262:908.
12. Manners RM, Morris RJ, Francis PJ, et al. Microphthalmos in association with Gorlin's syndrome. Br J Ophthalmol 1996;80:378.
13. Black GC, Mazerolle CJ, Wang Y, et al. Abnormalities of the vitreoretinal interface caused by disregulated Hedgehog signaling during retinal development. Hum Mol Genet 2003;12:3269-76.
14. 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 1997;60:21-6.
15. Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85:841-51.
16. Villavicencio EH, Walterhouse DO, Iannaccone PM. The sonic hedgehog-patched-gli pathway in human development and disease. Am J Hum Genet 2000;67:1047-54.
17. Belloni E, Muenke M, Roessler E, et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996;14:353-6.
18. ] 8 Roessler E, Belloni E, Gaudenz K, et al. Mutations in the human Sonic hedgehog gene cause holoprosencephaly. Nat Genet 1996;14:357-60.
19. Roessler E, Belloni E, Gaudenz K, et al. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 1997;6:1847-53.
20. Goodrich LV, Milenkovic L, Higgins KM, et al. Altered neural cell fates and medulloblastoma in mouse patched mutants. Science 1997;277:1109-13.
21. Milenkovic L, Goodrich LV, Higgins KM, et al. Mouse patched1 controls body size determination and limb patterning. Development 1999;126:4431-40.
22. Knudson AGJ. Mutation and Cancer: statistical study of retinoblastoma. Proc Natl Acad Sci 1971;68:820-3.
23. Levanat S, Gorlin RJ, Fallet S, et al. A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 1996;12:85-7.
24. Bonifas JM, Bare JW, Kerschmann RL, et al. Parental origin of chromosome 9q22.3-q31 lost in basal cell carcinomas from basal cell nevus syndrome patients. Hum Mol Genet 1994;3:447-8.
25. Cowan R, Hoban P, Kelsey A, et al. The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer 1997;76:141-5.
26. Pomeroy SL, Tamayo P, Gaasenbeek M, et al. Prediction of central nervous system embryonal tumour outcome based on gene expression. Nature 2002;415:436-42.
27. O'Malley S, Weitman D, Olding M, et al. Multiple neoplasms following craniospinal irradiation for medulloblastoma in a patient with nevoid basal cell carcinoma syndrome. Case report. J Neurosurg 1997;86:286-8.
28. Atahan IL, Yildiz F, Ozyar E, et al. Basal cell carcinomas developing in a case of medulloblastoma associated with Gorlin's syndrome. Pediatr Hematol Oncol 1998;15:187-91.
29. Ratcliffe JF, Shanley S, Chenevix-Trench G. The prevalence of cervical and thoracic congenital skeletal abnormalities in basal cell naevus syndrome; a review of cervical and chest radiographs in 80 patients with BCNS. Br J Radiol 1995;68:596-9.
30. Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. In: Washington U, ed. GeneReviews at gene tests: Medical Genetics Information Resource [database online]. Available at www.genetests.org. Seattle, 1997-2004 (updated October 2004).