Abstract
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.229 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.
| Original language | English |
|---|---|
| Pages (from-to) | 181-185 |
| Number of pages | 5 |
| Journal | International Journal of Audiology |
| Volume | 51 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 1 Mar 2012 |
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Keywords
- Aging
- Audiology
- Demographics/epidemiology
- Hearing aids
- Simddle ear
- Syndromes/genetics
ASJC Scopus subject areas
- Speech and Hearing
- Language and Linguistics
- Linguistics and Language
Cite this
GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population. / Al-Kowari, Moza K.; Girotto, G.; Abdulhadi, K.; Dipresa, S.; Siam, R.; Najjar, N.; Badii, R.; Gasparini, P.
In: International Journal of Audiology, Vol. 51, No. 3, 01.03.2012, p. 181-185.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population
AU - Al-Kowari, Moza K.
AU - Girotto, G.
AU - Abdulhadi, K.
AU - Dipresa, S.
AU - Siam, R.
AU - Najjar, N.
AU - Badii, R.
AU - Gasparini, P.
PY - 2012/3/1
Y1 - 2012/3/1
N2 - 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.229 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.
AB - 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.229 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.
KW - Aging
KW - Audiology
KW - Demographics/epidemiology
KW - Hearing aids
KW - Simddle ear
KW - Syndromes/genetics
UR - http://www.scopus.com/inward/record.url?scp=84857200820&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84857200820&partnerID=8YFLogxK
U2 - 10.3109/14992027.2011.625983
DO - 10.3109/14992027.2011.625983
M3 - Article
VL - 51
SP - 181
EP - 185
JO - International Journal of Audiology
JF - International Journal of Audiology
SN - 1499-2027
IS - 3
ER -