Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome

Andrew J. Griffith; Yandan Yang; Shannon P. Pryor; Hong Joon Park; Ethylin Wang Jabs; Joseph B. Nadol; Laura J. Russell; Daniel I. Wasserman; Gabriele Richard; Joe C. Adams; Saumil N. Merchant

doi:10.1097/01.mlg.0000224549.75161.ca

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome

Andrew J. Griffith, Yandan Yang, Shannon P. Pryor, Hong Joon Park, Ethylin Wang Jabs, Joseph B. Nadol, Laura J. Russell, Daniel I. Wasserman, Gabriele Richard, Joe C. Adams, Saumil N. Merchant

School of Medicine

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

Abstract

OBJECTIVE: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26). STUDY DESIGN: The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis. METHODS: The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones. RESULTS: The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium. CONCLUSIONS: GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.

Original language	English (US)
Pages (from-to)	1404-1408
Number of pages	5
Journal	Laryngoscope
Volume	116
Issue number	8
DOIs	https://doi.org/10.1097/01.mlg.0000224549.75161.ca
State	Published - Aug 2006

Keywords

Cochleosaccular dysplasia
Connexin 26
GJB2
Hearing
KID syndrome
Scheibe dysplasia

ASJC Scopus subject areas

Otorhinolaryngology

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title = "Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome",

abstract = "OBJECTIVE: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26). STUDY DESIGN: The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis. METHODS: The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones. RESULTS: The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium. CONCLUSIONS: GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.",

keywords = "Cochleosaccular dysplasia, Connexin 26, GJB2, Hearing, KID syndrome, Scheibe dysplasia",

author = "Griffith, {Andrew J.} and Yandan Yang and Pryor, {Shannon P.} and Park, {Hong Joon} and Jabs, {Ethylin Wang} and Nadol, {Joseph B.} and Russell, {Laura J.} and Wasserman, {Daniel I.} and Gabriele Richard and Adams, {Joe C.} and Merchant, {Saumil N.}",

year = "2006",

month = aug,

doi = "10.1097/01.mlg.0000224549.75161.ca",

language = "English (US)",

volume = "116",

pages = "1404--1408",

journal = "Laryngoscope",

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publisher = "John Wiley and Sons Inc.",

number = "8",

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TY - JOUR

T1 - Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome

AU - Griffith, Andrew J.

AU - Yang, Yandan

AU - Pryor, Shannon P.

AU - Park, Hong Joon

AU - Jabs, Ethylin Wang

AU - Nadol, Joseph B.

AU - Russell, Laura J.

AU - Wasserman, Daniel I.

AU - Richard, Gabriele

AU - Adams, Joe C.

AU - Merchant, Saumil N.

PY - 2006/8

Y1 - 2006/8

N2 - OBJECTIVE: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26). STUDY DESIGN: The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis. METHODS: The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones. RESULTS: The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium. CONCLUSIONS: GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.

AB - OBJECTIVE: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26). STUDY DESIGN: The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis. METHODS: The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones. RESULTS: The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium. CONCLUSIONS: GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.

KW - Cochleosaccular dysplasia

KW - Connexin 26

KW - GJB2

KW - Hearing

KW - KID syndrome

KW - Scheibe dysplasia

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SN - 0023-852X

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JO - Laryngoscope

JF - Laryngoscope

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ER -

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome

Abstract

Keywords

ASJC Scopus subject areas

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