GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population

被引:27
作者
Alkowari, M. Khalifa [2 ,3 ]
Girotto, G. [1 ]
Abdulhadi, K. [2 ,3 ]
Dipresa, S. [1 ]
Siam, R. [2 ,3 ]
Najjar, N. [4 ]
Badii, R. [2 ,3 ]
Gasparini, P. [1 ]
机构
[1] Univ Trieste, Inst Child Hlth, Dept Reprod Sci & Dev & Publ Hlth, IRCCS Burlo Garofolo, I-34100 Trieste, Italy
[2] Hamad Med Corp HMC, Lab Med & Pathol, Doha, Qatar
[3] Hamad Med Corp HMC, Mol Genet Lab, Doha, Qatar
[4] Hamad Med Corp HMC, Audiol & Balance Unit, WH, Natl Program Early Detect Hearing Loss, Doha, Qatar
关键词
Demographics/epidemiology; audiology; syndromes/genetics; aging; hearing aids; middle ear; DEAFNESS; IRAN; CONNEXIN-26; DFNB1; IMPAIRMENT; PREVALENCE; FORM;
D O I
10.3109/14992027.2011.625983
中图分类号
R36 [病理学]; R76 [耳鼻咽喉科学];
学科分类号
100104 ; 100213 ;
摘要
Objective: This study reports results from the first survey of the genetic causes of nonsyndromic sensorineural hearing loss (NSHHL) in the Qatari population. Design and Study samples: Data were collected from 126 Qatari patients (58 males and 68 females) belonging to inbred families (56%), showing an autosomal recessive pattern of inheritance (96%). Fifty-three patients were less than 10 years old, 55 in the age range of 10 to 20 years, while 18 were aged between 20 and 30 years. All subjects had moderate to severe sensorineural hearing loss and were screened for GJB2 mutations, GJB6 deletion, and for A1555G mitochondrial mutation. Results: Four patients were homozygous and one was heterozygous for c. 35delG; five were homozygous for the IVS1 + 1G < A, and two were heterozygous for c. 22(T > C. Only 8.3% of the pathogenic alleles were detected. No patients were positive for GJB6 deletion or for A1555G. Conclusions: These findings: (1) demonstrate that GJB2, GJB6 deletion and A1555G mutation account for a minor proportion of NSHHL in the Qatari population, (2) further strengthen the need to search for causative genes, (3) clearly contribute to establishing preventive strategies for NSHHL in Qatar and in the Gulf area.
引用
收藏
页码:181 / 185
页数:5
相关论文
共 21 条
[1]   Spectrum of GJB2 Mutations in a Cohort of Nonsyndromic Hearing Loss Cases from the Kingdom of Saudi Arabia [J].
Al-Qahtani, Mohammed H. ;
Baghlab, Ibtessam ;
Chaudhary, Adeel G. ;
Abuzenadah, Adel M. ;
Bamanie, Afaf ;
Daghistani, Kamal J. ;
Safieh, Malek ;
Fida, Loai ;
Dallol, Ashraf .
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (01) :79-83
[2]   Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G&gt;A in GJB2 gene as a result of founder effect [J].
Barashkov, Nikolay A. ;
Dzhemileva, Lilya U. ;
Fedorova, Sardana A. ;
Teryutin, Fedor M. ;
Posukh, Olga L. ;
Fedotova, Elvira E. ;
Lobov, Simeon L. ;
Khusnutdinova, Elza K. .
JOURNAL OF HUMAN GENETICS, 2011, 56 (09) :631-639
[3]   Is there any association between consanguinity and hearing loss [J].
Bener, A ;
ElHakeem, AAM ;
Abdulhadi, K .
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2005, 69 (03) :327-333
[4]   Consanguineous marriages and their effects on common adult diseases: Studies from an endogamous population [J].
Bener, Abdulbari ;
Hussain, Rafat ;
Teebi, Ahmad S. .
MEDICAL PRINCIPLES AND PRACTICE, 2007, 16 (04) :262-267
[5]  
Chaleshtori MH, 2006, IRAN J PUBLIC HEALTH, V35, P88
[6]   Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects:: a multicenter study [J].
del Castillo, I ;
Moreno-Pelayo, MA ;
del Castillo, FJ ;
Brownstein, Z ;
Marlin, S ;
Adina, Q ;
Cockburn, DJ ;
Pandya, A ;
Siemering, KR ;
Chamberlin, GP ;
Ballana, E ;
Wuyts, W ;
Maciel-Guerra, AT ;
Alvarez, A ;
Villamar, M ;
Shohat, M ;
Abeliovich, D ;
Dahl, HHM ;
Estivill, X ;
Gasparini, P ;
Hutchin, T ;
Nance, WE ;
Sartorato, EL ;
Smith, RJH ;
Van Camp, G ;
Avraham, KB ;
Petit, C ;
Moreno, F .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1452-1458
[7]   Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect:: implications for genetic counselling [J].
Denoyelle, F ;
Marlin, S ;
Weil, D ;
Moatti, L ;
Chauvin, P ;
Garabédian, EN ;
Petit, C .
LANCET, 1999, 353 (9161) :1298-1303
[8]   Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran:: Simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness [J].
Esmaeili, Mohsen ;
Bonyadi, Mortaza ;
Nejadkazem, Mohammad .
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2007, 71 (06) :869-873
[9]   Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness [J].
Green, GE ;
Scott, DA ;
McDonald, JM ;
Woodworth, GG ;
Sheffield, VC ;
Smith, RJH .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1999, 281 (23) :2211-2216
[10]   A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients [J].
Hamid, Mohammad ;
Karimipoor, Morteza ;
Chaleshtori, Morteza Hashemzadeh ;
Akbari, Mohammad Taghi .
JOURNAL OF GENETICS, 2009, 88 (03) :359-362