Phenotype and genotype in females with POU3F4 mutations

Clinical Genetics

Volumn 76, Issue 6, 2009, Pages 558-563

  Marlin, S ^a,b,c   Moizard, M P ^d   David, A ^e   Chaissang, N ^f   Raynaud, M ^d   Jonard, L ^b,c,g   Feldmann, D ^b,c,g   Loundon, N ^c,h   Denoyelle, F ^b,c,h   Toutain, A ^d  

^a Institut de Genetique   (France)

^b INSERM   (France)

^c Centre de référence   (France)

^d CHU BRETONNEAU   (France)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f CHU PURPAN   (France)

^g Service de Biochimie et Biologie Moléculaire   (France)

^h SERVICE DE DERMATOLOGIE   (France)

Author keywords

Carrier; DFN3; Female; Hearing loss; POU3F4

Indexed keywords

TRANSCRIPTION FACTOR POU; TRANSCRIPTION FACTOR POU3F4; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHROMOSOME DELETION; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE LOCATION; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HEARING LOSS; HETEROZYGOSITY; HUMAN; INNER EAR MALFORMATION; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL;

ADULT; AUDIOMETRY, PURE-TONE; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; PHENOTYPE; POU DOMAIN FACTORS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 70749137672     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01215.x     Document Type: Article

References (10)

1. de Kok YJ, van der Maarel SM, Bitner-Glindzicz M. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995, 267:685-688.
2. de Kok YJ, Vossenaar ER, Cremers CW. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet 1996, 5:1229-1235.
3. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992, 51:1229-1239.
4. Cremers CW, Huygen PL. Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int J Pediatr Otorhinolaryngol 1983, 6:179-185.
5. Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 1991, 33:326-330.
6. Piussan C, Hanauer A, Dahl N. X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21. Am J Hum Genet 1995, 56:224-230.
7. Papadaki E, Prassopoulos P, Bizakis J. X-linked deafness with stapes gusher in females. European journal of radiology 1998, 29:71-75.
8. Arellano B, Ramirez Camacho R, Garcia Berrocal JR, Villamar M, del Castillo I, Moreno F. Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3. Arch Otolaryngol Head Neck Surg 2000, 126:1065-1069.
9. Minowa O, Ikeda K, Sugitani Y. Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science 1999, 285:1408-1411.
10. Xia AP, Kikuchi T, Minowa O. Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses. Hear Res 2002, 166:150-158.