A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

Laryngoscope

Volumn 120, Issue 2, 2010, Pages 359-364

  Ramsebner, Reinhard ^a   Ludwig, Martin ^a   Parzefall, Thomas ^a   Lucas, Trevor ^a   Baumgartner, Wolf Dieter ^a   Bodamer, Olaf ^a   Cengiz, Filiz Basak ^b   Schoefer, Christian ^a   Tekin, Mustafa ^b,c   Frei, Klemens ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b ANKARA UNIVERSITY   (Turkey)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

FGF3; Hearing impairment; Labyrinth aplasia; Michel aplasia; Microdontia; Microtia

Indexed keywords

FIBROBLAST GROWTH FACTOR 3;

ADOLESCENT; ADULT; ARTICLE; AUDITORY SYSTEM EXAMINATION; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DEAFNESS; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INFANT; INNER EAR MALFORMATION; LABYRINTH APLASIA; LAMM SYNDROME; MALFORMATION SYNDROME; MICRODONTIA; MICROGNATHIA; MICROTIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; EAR, EXTERNAL; EAR, INNER; FEMALE; FIBROBLAST GROWTH FACTOR 3; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; TOOTH ABNORMALITIES;

EID: 76249133937     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.20689     Document Type: Article

References (19)

1. Morton CC, Nance WE. Newborn hearing screening - A silent revolution. N Engl J Med 2006;354:2151-2164.
2. Bamiou DE, Phelps P, Sirimanna T. Temporal bone computed tomography findings in bilateral sensorineural hearing loss. Arch Dis Child 2000;82:257-260.
3. Mafong DD, Shin EJ, Lalwani AK. Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope 2002;112:1-7.
4. Tekin M, Hismi BO, Fitoz S, et al. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet 2007;80:338-344.
5. Tekin M, Ozturkmen Akay H, Fitoz S, et al. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet 2008;73:554-565.
6. Ornitz DM, Itoh N. Fibroblast growth factors. Genome Biol 2001;2:REVIEWS3005.
7. Alsmadi O, Meyer BF, Alkuraya F, et al. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet 2009;17:14-21.
8. Wilkinson DG, Peters G, Dickson C, McMahon AP. Expression of the FGF-related proto-oncogene int-2 during gastrulation and neurulation in the mouse. Embo J 1988;7:691-695.
9. Alvarez Y, Alonso MT, Vendrell V, et al. Requirements for FGF3 and FGF10 during inner ear formation. Development 2003;130:6329-6338.
10. Zelarayan LC, Vendrell V, Alvarez Y, et al. Differential requirements for FGF3, FGF8 and FGF10 during inner ear development. Dev Biol 2007;308:379-391.
11. Moore JK, Linthicum FH Jr. The human auditory system: a timeline of development. Int J Audiol 2007;46:460-478.
12. Mansour SL, Goddard JM, Capecchi MR. Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear. Development 1993;117:13-28.
13. Johnson DE, Williams LT. Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res 1993;60:1-41.
14. Miki T, Fleming TP, Bottaro DP, Rubin JS, Ron D, Aaronson SA. Expression cDNA cloning of the KGF receptor by creation of a transforming autocrine loop. Science 1991;251:72-75.
15. Mohammadi M, Olsen SK, Ibrahimi OA. Structural basis for fibroblast growth factor receptor activation. Cytokine Growth Factor Rev 2005;16:107-137.
16. De Moerlooze L, Spencer-Dene B, Revest JM, Hajihosseini M, Rosewell I, Dickson C. An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis. Development 2000;127:483-492.
17. Lew ED, Bae JH, Rohmann E, Wollnik B, Schlessinger J. Structural basis for reduced FGFR2 activity in LADD syndrome: implications for FGFR autoinhibition and activation. Proc Natl Acad Sci U S A 2007;104:19802-19807.
18. Faham S, Linhardt RJ, Rees DC. Diversity does make a difference: fibroblast growth factor-heparin interactions. Curr Opin Struct Biol 1998;8:578-586.
19. Gregory-Evans CY, Moosajee M, Hodges MD, et al. SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. Hum Mol Genet 2007;16:2482-2493.