A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

被引：95
|
作者：
Manolis, EN
Yandavi, N
Nadol, JB
Eavey, RD
McKenna, M
Rosenbaum, S
Khetarpal, U
Halpin, C
Merchant, SN
Duyk, GM
MacRae, C
Seidman, CE
Seidman, JG
机构：
[1] HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115
[2] HARVARD UNIV,SCH MED,HOWARD HUGHES MED INST,BOSTON,MA 02115
[3] HARVARD UNIV,SCH MED,MASSACHUSETTS EYE & EAR INFIRM & OTOL & LARYNGOL,DEPT OTOLARYNGOL,BOSTON,MA 02114
[4] BRIGHAM & WOMENS HOSP,DEPT MED,BOSTON,MA 02115
[5] BRIGHAM & WOMENS HOSP,HOWARD HUGHES MED INST,BOSTON,MA 02115
[6] HARVARD UNIV,SCH MED,BOSTON,MA 02115
[7] SCH MED,DEPT PEDIAT,BOSTON,MA 02115
来源：
HUMAN MOLECULAR GENETICS | 1996年 / 5卷 / 07期
关键词：
D O I：
10.1093/hmg/5.7.1047
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to chromosome 14q12-13. A large kindred with autosomal dominant transmission of non-syndromic hearing loss was clinically studied. Hearing in affected individuals deteriorated at similar to 20 years of age and progressed to anacusis in the fifth decade. A random genome-wide search using polymorphic short tandem repeats demonstrated linkage with D14S121 (maximum two point LOD score = 6.19, theta = 0). Haplotype analysis of recombination events defined a 9 cM disease interval, between D14S252 and D14S49.
引用
收藏
页码：1047 / 1050
页数：4
相关论文
共 50 条
  • [31] Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
    Verhoeven, K
    Van Laer, L
    Kirschhofer, K
    Legan, PK
    Hughes, DC
    Schatteman, I
    Verstreken, M
    Van Hauwe, P
    Coucke, P
    Chen, A
    Smith, RJH
    Somers, T
    Offeciers, FE
    Van de Heyning, P
    Richardson, GP
    Wachtler, F
    Kimberling, WT
    Willems, PJ
    Govaerts, PJ
    Van Camp, G
    NATURE GENETICS, 1998, 19 (01) : 60 - 62
  • [32] Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss
    Nagy, Nikoletta
    Szalenko-Tokes, Agnes
    Pal, Margit
    Bokor, Barbara Anna
    Nagy, Roland
    Jarabin, Janos Andras
    Rovo, Laszlo
    Szell, Marta
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2025, 26 (04)
  • [33] Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
    Kristien Verhoeven
    Lut Van Laer
    Karin Kirschhofer
    P. Kevin Legan
    David C. Hughes
    Isabelle Schatteman
    Margriet Verstreken
    Peter Van Hauwe
    Paul Coucke
    Achih Chen
    Richard J.H. Smith
    Thomas Somers
    F. Erwin Offeciers
    Paul Van de Heyning
    Guy P. Richardson
    Franz Wachtler
    William J. Kimberling
    Patrick J. Willems
    Paul J. Govaerts
    Guy Van Camp
    Nature Genetics, 1998, 19 : 60 - 62
  • [34] A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24
    Verhoeven, K
    VanCamp, G
    Govaerts, PJ
    Balemans, W
    Schatteman, I
    Verstreken, M
    VanLaer, L
    Smith, RJH
    Brown, MR
    VandeHeyning, PH
    Somers, T
    Offeciers, FE
    Willems, PJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (05) : 1168 - 1173
  • [35] 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
  • [36] Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations
    Topsakal, Vedat
    Hilgert, Nele
    van Dinther, Joost
    Tranebjaerg, Lisbeth
    Rendtorff, Nanna D.
    Zarowski, Andrzej
    Offeciers, Erwin
    van Camp, Guy
    van de Heyning, Paul
    AUDIOLOGY AND NEURO-OTOLOGY, 2010, 15 (04) : 211 - 220
  • [37] Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans
    Ryu, Nari
    Sagong, Borum
    Park, Hong-Joon
    Kim, Min-A
    Lee, Kyu-Yup
    Choi, Jae Young
    Kim, Un-Kyung
    BMC MEDICAL GENETICS, 2016, 17
  • [38] A novel candidate gene-MACF1- associated with autosomal dominant non-syndromic hearing loss in an Iranian family
    Bazazzadegan, Niloofar
    Kahrizi, Kimia
    Najmabadi, Hossein
    Booth, Kevin T. A.
    Banihashemi, Sussan
    Arzhangi, Sanaz
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 961 - 961
  • [39] Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene
    Tesolin, Paola
    Morgan, Anna
    Notarangelo, Michela
    Ortore, Rocco Pio
    Concas, Maria Pina
    Notarangelo, Angelantonio
    Girotto, Giorgia
    GENES, 2021, 12 (07)
  • [40] A Novel Candidate Gene MACF1 is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family
    Bazazzadegan, Niloofar
    Babanejad, Mojgan
    Banihashemi, Susan
    Arzhangi, Sanaz
    Kahrizi, Kimia
    Booth, Kevin T. A.
    Najmabadi, Hossein
    ARCHIVES OF IRANIAN MEDICINE, 2025, 28 (01)
12345