DELTA (GJB6-D13S1830) IS NOT A COMMON CAUSE OF NONSYNDROMIC HEARING LOSS IN THE IRANIAN POPULATION

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RIAZ ALHOSSEINI Y.; KAHRIZI K.; SHAFEGHATI Y.; JOGATAIE M.T.; MOHSENI M.; MAHDIEH N.; JAVAN M.KH.; NAJMABAD H.; NISHIMURA C.; SMITH P.J.H.; DANESHI A.

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2005 | Volume:8 | Issue:2 Page(s): 104-108

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Title

DELTA (GJB6-D13S1830) IS NOT A COMMON CAUSE OF NONSYNDROMIC HEARING LOSS IN THE IRANIAN POPULATION

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Keywords

DELTA(GJB6-D13S1830) • IRANIAN • NONSYNDROMIC HEARING LOSS

Abstract

Background: Mutations in the gene that encodes the gap-junction protein connexin 26 (GJB2)
at the DFNB1 locus on chromosome 13q12 are the major cause of autosomal recessive nonsyndromic
sensorineural deafness (ARNSD) in many different populations. A fraction of patients
with GJB2 mutations have only one mutant allele, and in some familial cases with linkage to the
DFNB1 locus, no mutations in GJB2 are reported. Recently, a large deletion involving the GJB6
gene encoding connexin 30, which is also located at the DFNB1 locus delta(GJB6-D13S1830), has
been reported to cause ARNSD in homozygotes for this mutation and in compound heterozygotescarrying
deafness-causing allele variants of GJB2 on the opposite allele. To date, different papers
have been published reporting the presence or absence of this deletion in various populations.
Methods: Three hundred eighty-five probands segregating presumed autosomal recessive
nonsyndromic deafness were screened for GJB2 mutations using an allele-specific polymerase
chain reaction (PCR) assay to detect 35delG mutation. Direct sequencing was performed following
DHPLC analysis of all patients except 35delG homozygotes. Screening for ∆ (GJB6-D13S1830) was
completed using PCR primers that amplified the breakpoint junction of this deletion in all patients
heterozygous for only one GJB2 mutation and 116 probands with normal GJB2 alleles.
Results: GJB2-related deafness was diagnosed in 70 probands (18.2%). Sixteen patients were
found to carry only one GJB2 mutant allele. Additionally, we found three novel GJB2 allele
variants. ∆ (GJB6-D13S1830) was not detected in the subjects screened for this mutation.
Conclusion: Our finding indicates that ∆ (GJB6-D13S1830) is not a common cause of deafness
in Iran and suggests that this mutation is not widespread in the world.

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APA: Copy

RIAZ ALHOSSEINI, Y., KAHRIZI, K., SHAFEGHATI, Y., JOGATAIE, M.T., MOHSENI, M., MAHDIEH, N., JAVAN, M.KH., NAJMABAD, H., NISHIMURA, C., SMITH, P.J.H., & DANESHI, A.. (2005). DELTA (GJB6-D13S1830) IS NOT A COMMON CAUSE OF NONSYNDROMIC HEARING LOSS IN THE IRANIAN POPULATION. ARCHIVES OF IRANIAN MEDICINE, 8(2), 104-108. SID. https://sid.ir/paper/280039/en

Vancouver: Copy

RIAZ ALHOSSEINI Y., KAHRIZI K., SHAFEGHATI Y., JOGATAIE M.T., MOHSENI M., MAHDIEH N., JAVAN M.KH., NAJMABAD H., NISHIMURA C., SMITH P.J.H., DANESHI A.. DELTA (GJB6-D13S1830) IS NOT A COMMON CAUSE OF NONSYNDROMIC HEARING LOSS IN THE IRANIAN POPULATION. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2005;8(2):104-108. Available from: https://sid.ir/paper/280039/en

IEEE: Copy

Y. RIAZ ALHOSSEINI, K. KAHRIZI, Y. SHAFEGHATI, M.T. JOGATAIE, M. MOHSENI, N. MAHDIEH, M.KH. JAVAN, H. NAJMABAD, C. NISHIMURA, P.J.H. SMITH, and A. DANESHI, “DELTA (GJB6-D13S1830) IS NOT A COMMON CAUSE OF NONSYNDROMIC HEARING LOSS IN THE IRANIAN POPULATION,” ARCHIVES OF IRANIAN MEDICINE, vol. 8, no. 2, pp. 104–108, 2005, [Online]. Available: https://sid.ir/paper/280039/en

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