Sudden infant death in a patient with FGFR3 P250R mutation

American Journal of Medical Genetics, Part A

Volumn 140, Issue 24, 2006, Pages 2794-2796

  Shah, P S ^a   Siriwardena, K ^b,c   Taylor, G ^c   Steele, L ^c   Ray, P ^c   Blaser, S ^c   Chitayat, D ^b,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Craniosynostosis; Infancy; Muenke syndrome; Sudden unexpected death

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROLINE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; FGFR3 GENE; FINGER MALFORMATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALFORMATION SYNDROME; MUENKE SYNDROME; NEWBORN; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SUDDEN INFANT DEATH SYNDROME; UPPER RESPIRATORY TRACT OBSTRUCTION;

ADULT; AIRWAY OBSTRUCTION; AMINO ACID SUBSTITUTION; CRANIOSYNOSTOSES; FEMALE; HUMANS; INFANT, NEWBORN; POINT MUTATION; PREGNANCY; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SUDDEN INFANT DEATH; SYNDROME;

EID: 33845248213     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31517     Document Type: Article

References (14)

1. Arnaud E, Meneses P, Lajeunie E, Thorne JA, Marchac D, Renier D. 2002. Postoperative mental and morphological outcome for nonsyndromic brachycephaly. Plast Reconstr Surg 110:6-12.
2. Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M. 1996. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176.
3. Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. 2002. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet 110:136-143.
4. Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S. 1997. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. J Med Genet 34:683-684.
5. Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. 1998. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet 77:322-329.
6. Kakitsuba N, Sadaoka T, Motoyama S, Fujiwara Y, Kanai R, Hayashi I, Takahashi H. 1994. Sleep apnea and sleep-related breathing disorders in patients with craniofacial synostosis. Acta Otolaryngol Suppl 517:6-10.
7. Lo LJ, Chen YR. 1999. Airway obstruction in severe syndromic craniosynostosis. Ann Plast Surg 43:258-264.
8. Mitsukawa N, Satoh K, Hayashi T, Furukawa Y, Uemura T, Hosaka Y. 2004. A reflectable case of obstructive sleep apnea in an infant with Crouzon syndrome. J Craniofac Surg 15:874-878.
9. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO. 1997. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564.
10. Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW. 1998. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 62:1370-1380.
11. Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM. 1997. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet 34:632-636.
12. Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. 2004. Muenke syndrome. Childs Nerv Syst 20:297-301.
13. Sirotnak J, Brodsky L, Pizzuto M. 1995. Airway obstruction in the Crouzon syndrome: Case report and review of the literature. Int J Pediatr Otorhinolaryngol 31:235-246.
14. Thomas GP, Wilkie AO, Richards PG, Wall SA. 2005. FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. J Craniofac Surg 16:347-352.