Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss

Brent Kelly, Annabelle Lozano, Guillermo Altenberg, Tomoko Makishima

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Background: Keratitis-ichthyosis-deafness (KID) syndrome most commonly results from a mutation in the gap-junctional protein connexin 26 (Cx26) gene, GJB2. Most cases are sporadic and are associated with sensorineural hearing loss. Methods: We encountered a mother and daughter with KID syndrome, and pursued genetic analysis and an extensive hearing loss evaluation. Results: The analysis of genomic DNA of both affected patients revealed the mutation 148G → A in GJB2 (D50N). No mutation was found in an unaffected son. Auditory phenotype analysis showed a combined conductive and sensorineural hearing loss in both affected patients. Conclusions: This is the second vertical transmission of the D50N mutation. These are the first two cases with combined sensorineural and conductive hearing loss without any significant history of middle ear disease. This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss.

Original languageEnglish (US)
Pages (from-to)443-447
Number of pages5
JournalInternational Journal of Dermatology
Volume47
Issue number5
DOIs
StatePublished - May 2008

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Conductive Hearing Loss
Sensorineural Hearing Loss
Nuclear Family
Mothers
Mutation
Ear Diseases
Middle Ear
Hearing Loss
Connexin 26
Keratitis-Ichthyosis-Deafness Syndrome
Phenotype
DNA
Genes
Proteins

ASJC Scopus subject areas

  • Dermatology

Cite this

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title = "Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss",
abstract = "Background: Keratitis-ichthyosis-deafness (KID) syndrome most commonly results from a mutation in the gap-junctional protein connexin 26 (Cx26) gene, GJB2. Most cases are sporadic and are associated with sensorineural hearing loss. Methods: We encountered a mother and daughter with KID syndrome, and pursued genetic analysis and an extensive hearing loss evaluation. Results: The analysis of genomic DNA of both affected patients revealed the mutation 148G → A in GJB2 (D50N). No mutation was found in an unaffected son. Auditory phenotype analysis showed a combined conductive and sensorineural hearing loss in both affected patients. Conclusions: This is the second vertical transmission of the D50N mutation. These are the first two cases with combined sensorineural and conductive hearing loss without any significant history of middle ear disease. This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss.",
author = "Brent Kelly and Annabelle Lozano and Guillermo Altenberg and Tomoko Makishima",
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T1 - Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss

AU - Kelly, Brent

AU - Lozano, Annabelle

AU - Altenberg, Guillermo

AU - Makishima, Tomoko

PY - 2008/5

Y1 - 2008/5

N2 - Background: Keratitis-ichthyosis-deafness (KID) syndrome most commonly results from a mutation in the gap-junctional protein connexin 26 (Cx26) gene, GJB2. Most cases are sporadic and are associated with sensorineural hearing loss. Methods: We encountered a mother and daughter with KID syndrome, and pursued genetic analysis and an extensive hearing loss evaluation. Results: The analysis of genomic DNA of both affected patients revealed the mutation 148G → A in GJB2 (D50N). No mutation was found in an unaffected son. Auditory phenotype analysis showed a combined conductive and sensorineural hearing loss in both affected patients. Conclusions: This is the second vertical transmission of the D50N mutation. These are the first two cases with combined sensorineural and conductive hearing loss without any significant history of middle ear disease. This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss.

AB - Background: Keratitis-ichthyosis-deafness (KID) syndrome most commonly results from a mutation in the gap-junctional protein connexin 26 (Cx26) gene, GJB2. Most cases are sporadic and are associated with sensorineural hearing loss. Methods: We encountered a mother and daughter with KID syndrome, and pursued genetic analysis and an extensive hearing loss evaluation. Results: The analysis of genomic DNA of both affected patients revealed the mutation 148G → A in GJB2 (D50N). No mutation was found in an unaffected son. Auditory phenotype analysis showed a combined conductive and sensorineural hearing loss in both affected patients. Conclusions: This is the second vertical transmission of the D50N mutation. These are the first two cases with combined sensorineural and conductive hearing loss without any significant history of middle ear disease. This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss.

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