Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 8, 2009, Pages 1814-1817

  Slavotinek, Anne ^a   Crawford, Howard ^b   Golabi, Mahin ^a   Tao, Cathy ^a   Perry, Hazel ^a   Oberoi, Sneha ^a   Vargervik, Karin ^a   Friez, Michael ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACANTHOSIS NIGRICANS; ARNOLD CHIARI MALFORMATION; ASTIGMATISM; ATRESIA; BEARE STEVENSON LIKE SYNDROME; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHILD; CHOANA ATRESIA; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DIVERGENT STRABISMUS; DNA EXTRACTION; EXOPHTHALMOS; GENE DELETION; GENE SEQUENCE; GINGIVA HYPERPLASIA; HEARING LOSS; HUMAN; HYDROCEPHALUS; HYPERTELORISM; HYPOSPADIAS; LETTER; LOSS OF FUNCTION MUTATION; MALE; MYOPIA; OPTIC NERVE HYPOPLASIA; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOSARCOMA; SLEEP APNEA SYNDROME; SYNDACTYLY; TRACHEOSTOMY; TWIN PREGNANCY;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FACE; GENE DELETION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SYNDROME;

EID: 68049085664     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32947     Document Type: Letter

References (12)

1. Akai T, Iizuka H, Kishibe M, Kawakami S, Kobayashi A, Ozawa T. 2002. A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. Pediatr Neurosurg 37:97-99. (Pubitemid 34977959)
2. Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL, Wilkie AO. 2008. Rare mutations of FGFR2 causing apert syndrome: Identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat 30:204-211.
3. Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH. 2007. The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. J Korean Med Sci 22:352-356.
4. Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM. 2008. Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. Am J Med Genet Part A 146A:658-660.
5. Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr. 1992. Beare-Stevenson cutis gyrata syndrome. Am J Med Genet 44:82-89.
6. Krepelová A, Baxová A, Calda P, Plavka R, Kapras J. 1998. FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome. Am J Med Genet 76:362-364. (Pubitemid 28136112)
7. Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J. 2006. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 14:289-298.
8. McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. 2006. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clin Dysmorphol 15:89-93. (Pubitemid 44481241)
9. Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW. 1996. 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 58:491-498. (Pubitemid 26064541)
10. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. 1996. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet 13:492-494. (Pubitemid 26259929)
11. Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, Parra M, Munoz H, Maranduba CM, Passos-Bueno MR. 2003. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet Part A 121A:41-46. (Pubitemid 37059340)
12. Wang TJ, Huang CB, Tsai FJ, Wu JY, Lai RB, Hsiao M. 2002. Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. Clin Genet 61:218-221. (Pubitemid 36372636)