FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome

American Journal of Medical Genetics

Volumn 77, Issue 3, 1998, Pages 219-224

  Chun, Kathy ^a   Siegel Bartelt, Jacqueline ^a,b   Chitayat, David ^a,b   Phillips, John ^a,b   Ray, Peter N ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Antley Bixler syndrome; Autosomal dominant inheritance; Craniosynostosis; Elbow synostosis; Fibroblast growth factor receptor; Mutation

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; ELBOW; GENE MUTATION; HUMAN; NEWBORN; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; ELBOW JOINT; EXONS; FEMALE; GENES, DOMINANT; HUMANS; INFANT, NEWBORN; MALE; MUTATION; POLYMERASE CHAIN REACTION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SKULL; SPINAL DYSRAPHISM; SYNDROME; SYNOSTOSIS;

EID: 0032543288     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980518)77:3<219::AID-AJMG6>3.0.CO;2-K     Document Type: Article

References (27)

1. Antley R, Bixler D (1975): X-trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects: Orig Art Ser XI(2):397-401.
2. Bakker E, Van Broeckhoven C, Bonten EJ, van de Vooren MJ, Veenema H, Van Hul W, van Ommen GJB, Vandenberghe A, Pearson PL (1987): Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 329:554-556.
3. Cohen JMM (1993): Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45:300-307.
4. Crisponi G, Porcu C, Piu ME (1997): Antley-Bixler syndrome: Case report and review of the literature. Clin Dysmorphol 6:61-68.
5. Dell KR, Williams LT (1992): A novel form of fibroblast growth factor receptor 2: Alternative splicing of the third immunoglobulin-like domain confers ligand binding specificity. J Biol Chem 267:21225-21229.
6. DeLozier-Blanchet CD (1989): Antley-Bixler syndrome from a prognostic perspective. Am J Med Genet 32:262-263.
7. Feigin E, Udassin R, Seror D, Szold A, Ben Neriah Z, Glick B (1995): Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. Clin Genet 47:53-55.
8. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ (1994): Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530.
9. Hassell S, Butler MG (1994): Antley-Bixler syndrome: Report of a patient and review of literature. Clin Genet 46:372-376.
10. Kitoh H, Nogami H, Oki T, Arao K, Nagasaka M, Tanaka Y (1996): Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture. J Pediatr Orthop 16:243-246.
11. Miki T, Bottaro DP, Fleming TP, Smith CL, Burgess WH, Chan AM-L, Aaronson SA (1992): Determination of ligand-binding specificity by alternative splicing: Two distinct growth factor receptors encoded by a single gene. Proc Natl Acad Sci USA 89:246-250.
12. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, Winter RM (1994): A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 8:269-274.
13. Park W-J, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW (1995): Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4:1229-1233.
14. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow SJ, Cohen JMM, Jabs EW (1996): Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet 13:492-494.
15. Pulleyn LJ, Reardon W, Wilkes D, Rutland P, Jones BM, Hayward R, Hall CM, Brueton L, Chun N, Lammer E, Malcolm S, Winter RM (1996): Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. Eur J Hum Genet 4:283-291.
16. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994): Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 8:98-103.
17. Robinson LK, Powers MG, Dunklee P, Sherman S, Jones KL (1982): The Antley-Bixler syndrome. J Pediatr 101:201-205.
18. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM (1995): Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 9:173-176.
19. Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH, Di Fiore PP (1995): Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267:381-383.
20. Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C (1983): Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. Am J Med Genet 14:139-147.
21. Sorokin A, Lemmon MA, Ullrich A, Schlessinger J (1994): Stabilization of an active dimeric form of the epidermal growth factor receptor by introduction of an inter-receptor disulfide bond. J Biol Chem 269:9752-9759.
22. Suzuki K, Kanda Y, Sugiyama K, Katoh T, Wada Y, Yasui Y (1987): Antley-Bixler syndrome in a sister and brother. Jpn J Hum Genet 32:247-252.
23. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Dagna Bricarelli F, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G (1994): Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79:1111-1120.
24. Watowich SS, Yoshimura A, Longmore GD, Hilton DJ, Yoshimura Y, Lodish HF (1992): Homodimerization and constitutive activation of the erythropoietin receptor. Proc Natl Acad Sci USA 89:2140-2144.
25. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W (1995): Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9: 165-172.
26. Wood S, McGillivray BC (1988): Germinal mosaicism in Duchenne muscular dystrophy. Hum Genet 78:282-284.
27. Yasui Y, Yamaguchi A, Itoh Y, Ueke T, Sugiyama K, Wada Y (1983): The first case of the Antley-Bixler syndrome with a consanguinity in Japan. Jpn J Hum Genet 28:215-220.