LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1096-1101

  Sensi, Alberto ^a,b   Ceruti, Stefano ^c   Trevisi, Patrizia ^a   Gualandi, Francesca ^a   Busi, Micol ^a   Donati, Ilaria ^a   Neri, Marcella ^a   Ferlini, Alessandra ^d   Martini, Alessandro ^a  

^a UNIVERSITY HOSPITAL OF FERRARA   (Italy)

^b AUSL   (Italy)

^c Azienda Ospedaliero Universitaria di Ferrara ^*  (Italy)

^d UNIVERSITY OF FERRARA   (Italy)

Author keywords

FGF3; LAMM; Microtia; Syndromic deafness

Indexed keywords

CYSTEINE; FIBROBLAST GROWTH FACTOR 3; TRYPTOPHAN; TYROSINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CAUCASIAN; CHILD; CHROMOSOME ANALYSIS; EAR DYSPLASIA; FAMILY STUDY; FEMALE; FGF3 GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; INNER EAR MALFORMATION; LABYRINTHINE APLASIA; MALE; MICRODONTIA; MICROTIA; MIDDLE EAR DYSPLASIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; EAR DISEASES; FEMALE; FIBROBLAST GROWTH FACTOR 3; HETEROZYGOTE; HUMANS; MALE; MUTATION; SYNDROME;

EID: 79955041485     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33962     Document Type: Article

References (14)

1. Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M. 2009. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet 17: 14-21.
2. Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Rüschendorf F, Santos-Pinto L, Wackens G, Gregory-Evans K. 2007. 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 16: 2482-2493.
3. Hersh JH, Ganzel TM, Fellows RA. 1991. Michel's anomaly, type I microtia and microdontia. Ear Nose Throat J 70: 155-157.
4. Itoh N, Ornitz DM. 2008. Functional evolutionary history of the mouse fgf gene family. Dev Dyn 237: 18-27.
5. Jorgenson RJ, Marsh SJ, Farrington FH. 1975. Otodental dysplasia. Birth Defects Orig Artic Ser 11: 115-119.
6. Mansour SL, Goddard JM, Capecchi MR. 1993. Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear. Development 117: 13-28.
7. Méhes K. 1990. Morphogenetic variants in parents of children with recessive malformation syndromes. Kinderarztl Prax 58: 125-129.
8. Ozgen B, Oguz KK, Atas A, Sennaroglu L. 2009. Complete labyrinthine aplasia: Clinical and radiologic findings with review of the literature. AJNR Am J Neuroradiol 30: 774-780.
9. Plotnikov AN, Schlessinger J, Hubbard SR, Mohammadi M. 1999. Structural basis for FGF receptor dimerization and activation. Cell 98: 641-650.
10. Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner WD, Bodamer O, Cengiz FB, Schoefer C, Tekin M, Frei K. 2010. A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope 120: 359-364.
11. Reardon W, Toriello HV, Downs CA. 2004. Epidemiology, etiology, genetic patterns and genetic counselling. In: Toriello HV, Reardon W, Gorlin RJ, editors. Hereditary hearing loss and its syndromes 2nd edition. Oxford: Oxford University Press. pp. 8-16.
12. Represa J, Leòn Y, Miner C, Giraldez F. 1991. The int-2 proto-oncogene is responsible for induction of the inner ear. Nature 353: 561-563.
13. Tekin M, Hişmi BO, Fitoz S, Ozdaǧ H, Cengiz FB, Sirmaci A, Aslan I, Inceoǧlu B, Yüksel-Konuk EB, Yilmaz ST, Yasun O, Akar N. 2007. 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 80: 338-344.
14. Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroǧlu L, Incesulu A, Yüksel Konuk EB, Hasanefendioǧlu Bayrak A, Sentürk S, Cebeci I, Utine GE, Tunçbilek E, Nance WE, Duman D. 2008. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet 73: 554-565.