Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3);Klinische und molekulargenetische analyse monozygoter zwillinge mit stapes-gusher-syndrom (DFN3)

HNO

Volumn 51, Issue 8, 2003, Pages 629-633

  Oh, N ^b   Kupka, S ^b   Mirghomizadeh, F ^b   Arold, R ^b   Zimmermann, R ^b   Blin, N ^b   Zenner, H P ^b   Pfister, M ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b NONE

Author keywords

DFN3; Double deletion; Monozygotic twins; POU3F4; X chromosomal hearing impairment

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CHILD; CHROMOSOME ABERRATION; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE; GENE DELETION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; MALE; MOLECULAR GENETICS; MONOZYGOTIC TWINS; MOTHER; POU3F4 GENE; STAPES GUSHER SYNDROME; SYNDROME; X CHROMOSOME LINKED DISORDER;

AUDIOMETRY, PURE-TONE; BONE CONDUCTION; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; DEAFNESS; DIAGNOSIS, DIFFERENTIAL; DISEASES IN TWINS; EAR, INNER; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; MALE; MICROSATELLITE REPEATS; PHENOTYPE; POLYMERASE CHAIN REACTION; POU DOMAIN FACTORS; SEX CHROMOSOME ABERRATIONS; STAPES; STAPES SURGERY; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; TRANSCRIPTION FACTORS; TWINS, MONOZYGOTIC;

EID: 0041325054     PISSN: 00176192     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00106-002-0777-7     Document Type: Article

References (7)

1. Nance WE, Sweeney A (1975) Genetic factors in deafness of early life. Otolaryngol Clin North Am 8: 19-48
2. Reardon W (1990) Sex linked deafness: Wilde revisited. J Med Genet 27: 376-379
3. Bitner-Glindzicz M, Turnpenny P, Hoeglund P et al. (1995) Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 4: 1467-1469
4. Glasscock ME (1973) The stapes gusher. Arch Otolaryngol 98: 82-91
5. Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L (1991) X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 33: 326-330
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7. de Kok YJM, Merkx GFM, van der Maarel SM et al. (1995) A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4gene. Hum Mol Genet 4: 2145-2150