Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Journal of Medical Genetics

Volumn 37, Issue 1, 2000, Pages 26-32

  Reardon, William ^a   Sillence, David ^d   Kumar, Dhavendra ^e   Delozier Blanchet, Celia ^f   McKee, Shane ^g   Kelly, Thaddeus ^h   McKeehan, Wallace L ⁱ   Baraitser, Michael ^a   Winter, Robin M ^a   Smith, Anne ^a   Honour, John W ^b   Hindmarsh, Peter ^c   Das, Debipriya ^b   Rumsby, Gill ^b   Nelson, Isabelle ^a   Malcolm, Sue ^a   Adès, Lesley ^d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^c UNIVERSITY COLLEGE HOSPITAL   (United Kingdom)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF GENEVA   (Switzerland)

^g BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^h UNIVERSITY OF VIRGINIA   (United States)

ⁱ TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

Antley Bixler syndrome; Congenital adrenal hyperplasia; CYP21 deficiency; FGFR

Indexed keywords

STEROID;

ANTLEY BIXLER SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MUTATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; STEROIDOGENESIS;

EID: 0034059969     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.1.26     Document Type: Article

References (59)

1. Antley RM, Bixler D. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects 1975;XI(2):397-401.
2. Crisponi G, Porcu C, Piu ME. Antley-Bixler syndrome: case report and review of the literature. Clin Dysmorpnol 1997;6:-61-8.
3. Gorlin RJ. Patient described by Chun et al. may not present Antley-Bixler syndrome. Am J Med Genet 1999;83:64.
4. Gripp KW, Zackai EH, Cohen MM Jr. Not Antley-Bixler syndrome. Am J Med Genet 1999;83:65-6.
5. Chitayat D, Chun K. Reply to the letter to the Editor by Gripp et al. Not Antley-Bixler syndrome. Am J Med Genet 1999;83:67-8.
6. Poddevin F, Delobel B, Courreges P, Bayart M. Antley-Bixler syndrome: case report and review of the literature. Genet Couns 1995;6:241-6.
7. McKusick VA. Mendelian inheritance in man. 12th ed. Baltimore: Johns Hopkins University Press, 1998.
8. Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C. Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. Am J Med Genet 1983;14:139-47.
9. Suzuki K, Kanda Y, Sugiyama K, Katoh T, Wada Y, Yasui Y. Antley-Bixler syndrome in a sister and brother. Jpn J Hum Genet 1987;32:247-52.
10. LeHeup BP, Masutti JP, Droulle P, Tisserand J. The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. EurJ Pediatr 1982;154:130-3.
11. Yasui Y, Yamaguchi Y, Itoh Y, Ueke T, Sugiyama K, Wada Y. The first case of the Antley-Bixler syndrome with consanguinity in japan. Jpn J Hum Genet 1983;28:215-20.
12. Feigin E, Udassin R, Seror D, Szold A, Neriah Z, Glick B. Antley-Bixler syndrome and oesophageal atresia in a patient with trisomy 21. Clin Genet 1995;47:53-5.
13. Rutland P, Pulleyn LJ, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon phenotypes. Nat Genet 1995;9:173-6.
14. Plomp A, Hamel BCJ, Cobben JM, et al. Pfeiffer syndrome type II: further delineation and review of the literature. Am J Med Genet 1998;75:245-51.
15. Schaefer F, Anderson C, Can B, Say B. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am J Med Genet 1998;75:252-5.
16. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994;-6:98-103.
17. Reardon W, Winter RM. The molecular pathology of syndromic craniosynostosis. Mol Med Today 1995;1:432-7.
18. Wilkie AOM. Craniosynostosis: genes and mechanisms. Hum Mol Genet 1997;6:1647-56.
19. Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78:335-42.
20. Rousseau F, Bonaventure J, Legeai-Mallet L, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994;371:252-4.
21. Tavormina PL, Shiang R, Thompson LM, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995;9:321-8.
22. Pulleyn LJ, Reardon W, Wilkes D, et al. Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor 2 locus. Eur J Hum Genet 1996;4:283-91.
23. Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet 1998;77:219-24.
24. Gripp KW, Stolle CA, McDonald-McGinn DM, et al. Phenotype of the fibroblast growth factor receptor 2 ser351cys mutation: Pfeiffer syndrome type III. Am J Med Genet 1998;78:356-60.
25. Lee BE, Feinberg M, Abraham JJ, Murthy ARK. Congenital malformations in an infant born to a woman treated with fluconazole. Pediatr Infect Dis J 1992;11:1062-4.
26. Pursley TJ, Blomquist IK, Abraham J, Andersen HF, Bartley JA. Fluconazole-induced congenital anomalies in three infants. Clin Infect Dis 1996;22:336-40.
27. Aleck KA, Bartley DL. Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient. Am J Med Genet 1997;72:253-6.
28. DeLozier CD, Antley RM, Williams R, et al. The syndrome of multisynostotic osteodysgenesis with long-bone fractures. Am J Med Genet 1980;7:391-403.
29. DeLozier-Bianchet CD. Antley-Bixler syndrome from a prognostic perspective. Am J Med Genet 1989;32:262-3.
30. Kumar D, Masel JP, A new multiple malformation syndrome of Mullerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis. Clin Genet 1997;52:30-6.
31. Honour JW. Steroid profiling. Ann Clin Biochem 1997;34:-32-44.
32. Rumsby G, Avey C, Conway G, Honour JW, Genotype-phenotype analysis in late onset 21-hydroxylase deficiency. Clin Endocrinol 1998;48:707-11.
33. Zervos M, Meunier F. Fluconazole (diflucan): a review. Int J Antimicrob Agents 1993;3:147-70.
34. Como JA, Dismukes WE. Oral azole drugs as systemic antifungal therapy. X Engl J Med 1994;330:263-72.
35. Hanger DP, Jevons S, Shaw JTB. Fluconazole and testosterone: in vivo and in vitro studies. Antimicrob Agents Chemother 1988;32:646-8.
36. Sonino N, The use of ketoconazole as an inhibitor of steroid production. N Engl J Med 1987;317:812-18.
37. Loose DS, Ran PB, Hirst MA, Marcus RA, Feldman D. Ketoconazole blocks adrenal steroidogenesis by inhibiting cytochrome p450-dependent enzymes. J Clin Invest 1983;-71:1495-9.
38. Inman W, Pearce G, Wilton L. Safety of fluconazole in the treatment of vaginal candidiasis: a prescription-event monitoring study, with special reference to the outcome of pregnancy. Eur J Clin Pharmacol 1994;46:115-18.
39. Mastroiacovo P, Mazzone T, Botto LD, et al. Prospective assessment of pregnancy outcomes after first-trimester exposure to fluconazole. Am J Obstet Gynecol 1961;175:-1645-50.
40. Hardman JG, Limbird LE, eds. Goodman and Gilman's the pharmacological basis of therapeutics. 9th ed. New York: McGraw-Hill, 1996.
41. Pfizer Ltd. Study report 227. A double-blind study against placebo to assess the safety, toleration and pharmacokinetics of 3 different dose levels of fluconazole (200 mg, 300 mg, 400 mg) each given once daily for 14 consecutive days.
42. Donohoue PA, Parker K, Midgeon CJ. Congenital adrenal hyperplasia. In: The metabolic basis of inherited disease. 7th ed. New York: McGraw-Hill, 1995:2929-66.
43. Galvin BD, Hart KC, Meyer AN, Webster MK, Donoghue DJ. Constitutive receptor activation of Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR) 2 and FGFR2/Neu chimeras. Proc Natl Acad Sci USA 1996;-93:7894-9.
44. Tartaglia M, Valeri S, Verlardi F, Di Rocco C, Bartaglia PA, Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet 1997;99:602-6.
45. Gorry MC, Preston RA, White GJ, et al. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. Hum Mol Genet 1995;4:1387-90.
46. Meyers GA, Day D, Goldberg R, et al. FGFR2 Exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss and Pfeiffer syndromes: evidence for missense changes, insertions and a deletion due to alternative RNA splicing. Am J Hum Genet 1996;58:491-8.
47. Malcolm S, Reardon W. Fibroblast growth factor receptor-2 mutations in craniosynostosis. Ann NY Acad Sci 1995:164-70.
48. McKeehan WL, Wang F, Kan M. The heparan sulfate-fibroblast growth factor family: diversity of structure and function. Prog Nucleic Acids Res Mol Biol 1998;5:135-76.
49. Wang F, Kan M, McKeehan K, Feng S, McKeehan WL. A homeo-interaction sequence in the ectoderm of the fibroblast growth factor receptor J Biol Chem 1997;272:-23887-95.
50. Kan M, Wang F, Kan M, To B, Gabriel J, McKeehan WL. Divalent cations and heparin/heparan sulfate cooperate to control assembly and activity of the fibroblast growth factor receptor complex. J Biol Chem 1996;271:26143-8.
51. Kan M, Wu X, Wang F, McKeehan WL. Specificity for fibroblast growth factor (FGF) determined by the heparan sulfate subunit of a heparan sulfate-receptor kinase binary complex. J Biol Chem 1999,274:15947-52.
52. McKeehan WL, Wu X, Kan M. Requirement for anticoagulant heparin/heparan sulfate in the fibroblast growth factor receptor complex. J Biol Chem 1999;274:21511-14.
53. Bentley SA, Kirby SL, Anklesaria P, Greenberger JS. Bone marrow stromal proteoglycan heterogeneity: phenotypic variability between cell lines and the effects of glucocorticoid. J Cell Physiol 1988;136:182-7.
54. Kasinath BS, Singh AK, Kanwar YS, Lewis EJ. Dexamethasone increases heparan sulfate proteoglycan core protein content of glomerular epithelial cells. J Lab Clin Med 1990;-115:196-202.
55. Leppa S, Harkonen P, Jalkanen M. Steroid induced epithelial-fibroblastic conversion associated with syndecan suppression in S115 mouse mammary tumor cells. Cell Regulation 1991;2:1-11.
56. Ostlere LS, Rumsby G, Holownia P, Jacobs HS, Rustin MHA, Honour JW, Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne. Clin Endocrinol 1998;48:209-15.
57. Munro CS, Wilkie AOM. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 1998;352:704-5.
58. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-8.
59. Morell R, Spritz RA, Ho L, et al. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet 1997;6:659-64.