A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Castillo, Francisco; Rodríguez-Ballesteros, Montserrat; Álvarez, A. Fernández; Hutchin, Tim; Leonardi, Emanuela; Oliveira, Camila Andréa de; Azaiez, Héla; Brownstein, Zippora; Avenarius, Matthew R.; Marlin, Sandrine; Pandya, Arti; Shahin, Hashem; Siemering, Kirby; Weil, Dominique; Wuyts, Wim; Aguirre, Luis A.; Martín, Yolanda; Moreno-Pelayo, Miguel A.; Villamar, Manuela; Avraham, Karen B.; Dahl, Hans Henrik M.; Kanaan, Moien; Nance, Walter E.; Petit, Christine; Smith, Richard J.H.; Camp, Guy Van; Sartorato, Edi Lúcia; Murgia, Alessandra; Moreno, Felipe; Castillo, Ignacio del

doi:10.1136/jmg.2004.028324

Cited by 299 publications

(307 citation statements)

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“…Among the 648 patient and 560 control chromosomes analyzed in this study, the 232 kb deletion involving GJB6 [Del Castillo et al, 2005] was not found. The 309 kb deletion involving GJB6 [Lerer et al, 2001;Pallares-Ruiz et al, 2002;del Castillo et al, 2002] was observed only once, in a patient of unknown ethnicity who is heterozygous for a p.Gln57X (p.Q57X) mutation in GJB2 (data not shown).…”

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confidence: 69%

“…Patients and controls were evaluated for DNA sequence variations in GJB2 as previously described [Tang et al, 2005[Tang et al, , 2006 and for deletions in GJB6 using a triplex PCR test based on the assay of Del Castillo et al [2005]. The triplex PCR test incorporated the following primers from Del Castillo et al [2005]: GJB6-1R and BKR-1 to amplify across the breakpoints of the 309 kb deletion; and, Cx30Ex1A and Cx30Ex1B to amplify GJB6 exon 1.…”

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confidence: 99%

“…The triplex PCR test incorporated the following primers from Del Castillo et al [2005]: GJB6-1R and BKR-1 to amplify across the breakpoints of the 309 kb deletion; and, Cx30Ex1A and Cx30Ex1B to amplify GJB6 exon 1.…”

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confidence: 99%

“…It is likely that founder effects, population stratification, and assortative mating at least partially explain the variable frequency of these deletions in different populations [Lerer et al, 2001;Pallares-Ruiz et al, 2002;del Castillo et al, 2002;Fitzgerald et al, 2004;Gualandi et al, 2004;Roux et al, 2004;Dalamon et al, 2005;Del Castillo et al, 2005;Seeman et al, 2005].…”

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confidence: 99%

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Infrequency of two deletion mutations at the DFNB1 locus in patients and controls

Tang

Basehore

Blakey

et al. 2008

American J of Med Genetics Pt A

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confidence: 69%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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Infrequency of two deletion mutations at the DFNB1 locus in patients and controls

Tang

Basehore

Blakey

et al. 2008

American J of Med Genetics Pt A

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“…Therefore, the potential for such deletions to be present should be kept in mind. To date, six large deletions contributing to HL have been identified in the DFNB1 region 6, 7, 8, 9, 10, 11…”

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confidence: 99%

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Abe

Nishio

Yokota

et al. 2018

Clinical Case Reports

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Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss

Kenna¹,

Feldman²,

Neault³

et al. 2010

Arch Otolaryngol Head Neck Surg

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Objectives To document the audiologic phenotype of children with biallelic GJB2 (connexin 26) mutations, and to correlate it with the genotype. Design Prospective, observational study. Setting Tertiary care children’s hospital. Patients Infants and children with sensorineural hearing loss (SNHL). Intervention Sequencing of the GJB2 (connexin 26) gene. Main Outcome Measures Degree and progression of SNHL. Results From December 1, 1998, through November 30, 2006, 126 children with biallelic GJB2 mutations were identified. Of the 30 different mutations identified, 13 (43%) were truncating and 17 (57%) were nontruncating; 62 patients had 2 truncating, 30 had 1 truncating and 1 nontruncating, and 17 had 2 nontruncating mutations. Eighty-four patients (67%) initially had measurable hearing in the mild to severe range in at least 1 of 4 frequencies (500, 1000, 2000, or 4000 Hz). Of these 84 patients with residual hearing, 47 (56%) had some degree of progressive hearing loss. Patients with 2 truncating mutations had significantly worse hearing compared with all other groups. Patients who had 1 or 2 copies of either an M34T or a V37I allele had the mildest hearing loss. Conclusions Hearing loss owing to GJB2 mutations ranges from mild to profound and is usually congenital. More than 50% of patients will experience some hearing loss progression, generally gradually but occasionally precipitously. Hearing loss severity may be influenced by genetic factors, such as the degree of preserved protein function in nontruncating mutations, whereas hearing loss progression may be dependent on factors other than the connexin 26 protein. Genetic counseling for patients with GJB2 mutations should include the variable audiologic phenotype and the possibility of progression.

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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Cited by 299 publications

References 34 publications

Infrequency of two deletion mutations at the DFNB1 locus in patients and controls

Infrequency of two deletion mutations at the DFNB1 locus in patients and controls

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss

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