Hearing impairment affects about 1 in 1000 newborns. Mutations in the connexin 26 (GJB2) gene rank among the most frequent causes of non-syndromic deafness in different populations, while delGJB6-D13S1830 mutation located in the DFNB30 locus is known to cause sensorineural hearing loss. Despite the many studies on the involvement of GJB2 mutations in hearing impairment in different populations, there is little information on genetic deafness in Brazil, especially in the Amazon region. Objective: To determine the prevalence of GJB2 mutations and delGJB6-D1381830 in 77 sporadic non-syndromic deaf patients. Method: The coding region of the GJB2 gene was sequenced and polymerase chain reaction was performed to detect the delGJB6-D1381830 mutation. Results: Mutant allele 35deIG was found in 9% of the patients (7/77). Mutations M34T and V95M were detected in two distinct heterozygous patients. Non-pathogenic mutation V27I was detected in 28.6% of the patients (22/77). None of the deaf patients carried the delGJB6-D1381830 mutation. Conclusion: Mutant alleles on gene GJB2 were observed in 40% (31/77) of the subjects in the sample. Pathogenic variants were detected in only 12% (9/77) of the individuals. More studies are required to elucidate the genetic causes of hearing loss in miscegenated populations.
机构:
Pham Ngoc Thach Univ Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Hoang, Phuong Thu Vu
Ngo, Minh Xuan
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Pham Ngoc Thach Univ Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Ngo, Minh Xuan
Tran, Quang Minh Le
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Tran, Quang Minh Le
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Nguyen, Thanh Vinh
Do, Hong Giang
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Do, Hong Giang
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Nguyen, Thanh Vu
Nguyen, Anh Thu Ha
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Nguyen, Anh Thu Ha
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Thi, Thu Hang Do
Thi, Dieu Hien Huynh
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Thi, Dieu Hien Huynh
Phan, Chung Thuy Tran
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, Vietnam
Ear Nose Throat Hosp Ho Chi Minh City, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Phan, Chung Thuy Tran
BIOMEDICAL RESEARCH AND THERAPY,
2023,
10
(01):
: 5523
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5529
机构:
Atom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, SyriaAtom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, Syria
Al-Achkar, Walid
AL-Halabi, Bassel
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Atom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, SyriaAtom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, Syria
AL-Halabi, Bassel
Ali, Bashar
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Atom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, SyriaAtom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, Syria
Ali, Bashar
Moassass, Faten
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Atom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, SyriaAtom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, Syria
机构:
Pham Ngoc Thach Univ Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Hoang, Phuong Thu Vu
Ngo, Minh Xuan
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机构:
Pham Ngoc Thach Univ Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Ngo, Minh Xuan
Tran, Quang Minh Le
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Tran, Quang Minh Le
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Nguyen, Thanh Vinh
Do, Hong Giang
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Do, Hong Giang
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Nguyen, Thanh Vu
Nguyen, Anh Thu Ha
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Nguyen, Anh Thu Ha
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Thi, Thu Hang Do
Thi, Dieu Hien Huynh
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Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Thi, Dieu Hien Huynh
Phan, Chung Thuy Tran
论文数: 0引用数: 0
h-index: 0
机构:
Vietnam Natl Univ HoChiMinh city, Sch Med, Ho Chi Minh City, Vietnam
Ear Nose Throat Hosp Ho Chi Minh City, Ho Chi Minh City, VietnamPham Ngoc Thach Univ Med, Ho Chi Minh City, Vietnam
Phan, Chung Thuy Tran
BIOMEDICAL RESEARCH AND THERAPY,
2023,
10
(01):
: 5523
-
5529
机构:
Atom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, SyriaAtom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, Syria
Al-Achkar, Walid
AL-Halabi, Bassel
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h-index: 0
机构:
Atom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, SyriaAtom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, Syria
AL-Halabi, Bassel
Ali, Bashar
论文数: 0引用数: 0
h-index: 0
机构:
Atom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, SyriaAtom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, Syria
Ali, Bashar
Moassass, Faten
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h-index: 0
机构:
Atom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, SyriaAtom Energy Commiss, Div Human Genet, Mol Biol & Biotechnol Dept, Damascus, Syria