New autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: Report on a Brazilian family

被引:0
|
作者
Zanchetta, S
Ohara, K
Rodrigues, PT
Carvalho, ELL
Richieri-Costa, A
机构
[1] Univ Sao Paulo, HRAC, Dept Clin Genet, BR-17043900 Bauru, SP, Brazil
[2] Univ Marilia, Fac Med, Sao Paulo, Brazil
[3] Univ Marilia, Fac Ciencias Saude, Sao Paulo, Brazil
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2000年 / 95卷 / 01期
关键词
autosomal-dominant inheritance; high-frequency sensorineural hearing loss; non-progressive deafness;
D O I
10.1002/1096-8628(20001106)95:1<13::AID-AJMG4>3.0.CO;2-T
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a three-generation Brazilian family with seven patients affected with non-progressive high-frequency sensorineural hearing loss with no associated anomalies first noted in early infancy. To our knowledge this is the first report on this autosomal-dominant condition. Clinical, audiological, and genetic aspects are discussed. (C) 2000 Wiley-Liss, Inc.
引用
收藏
页码:13 / 16
页数:4
相关论文
共 50 条
  • [1] Audiometric characterization of a family with digenic autosomal, dominant, progressive sensorineural hearing loss
    Borg, E
    Samuelsson, E
    Dahl, N
    ACTA OTO-LARYNGOLOGICA, 2000, 120 (01) : 51 - 57
  • [2] New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: Report on two Brazilian patients
    DeVitto, LPM
    Costa, OA
    Bevilaqua, MC
    Passerotti, S
    RichieriCosta, A
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 70 (03): : 247 - 249
  • [3] Non-syndromic autosomal dominant sensorineural hearing loss: a new field of research
    Kunst, H
    Marres, H
    van Camp, G
    Cremers, C
    CLINICAL OTOLARYNGOLOGY, 1998, 23 (01) : 9 - 17
  • [4] High-Frequency Sensorineural Hearing Loss in Children
    Johnson, Kaalan
    Tabangin, Meredith
    Meinzen-Derr, Jareen
    Cohen, Aliza P.
    Greinwald, John H.
    LARYNGOSCOPE, 2016, 126 (05): : 1236 - 1240
  • [5] Non-syndromic autosomal dominant progressive hearing loss in an Israeli family.
    Vahava, O
    Morell, R
    Ploplis, B
    Friedman, TB
    Avraham, KB
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A298 - A298
  • [6] A family with autosomal dominant sensorineural hearing loss and cicatrizing keratoderma (Vohwinkel syndrome)
    Nasr, B.
    Wahie, S.
    BRITISH JOURNAL OF DERMATOLOGY, 2015, 173 : 165 - 165
  • [7] AUTOSOMAL RECESSIVE PROGRESSIVE HIGH-FREQUENCY SENSORINEURAL DEAFNESS IN CHILDHOOD
    CREMERS, CWRJ
    VANRIJN, P
    TERHAAR, BGA
    CLINICAL OTOLARYNGOLOGY, 1987, 12 (02): : 145 - 145
  • [8] AUTOSOMAL RECESSIVE PROGRESSIVE HIGH-FREQUENCY SENSORINEURAL DEAFNESS IN CHILDHOOD
    CREMERS, C
    VANRIJN, P
    TERHAAR, B
    ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY, 1987, 113 (12) : 1319 - 1324
  • [9] DETECTION OF NORMAL-HEARING CARRIERS OF THE GENE FOR THE AUTOSOMAL DOMINANT PROGRESSIVE SENSORINEURAL HEARING-LOSS
    STOLBOVA, D
    VALVODA, M
    ACTA OTO-LARYNGOLOGICA, 1985, 99 (5-6) : 509 - 515
  • [10] A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss
    Govaerts, PJ
    De Ceulaer, G
    Daemers, K
    Verhoeven, K
    Van Camp, G
    Schatteman, I
    Verstreken, M
    Willems, PJ
    Somers, T
    Offeciers, FE
    AMERICAN JOURNAL OF OTOLOGY, 1998, 19 (06): : 718 - 723