Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma

Nishtha Pandey, Dennis F. Xavier, Arunima Chatterjee, Ram Shankar Mani, Ravi Hiremagalore, Ajith Tharakan, B. Rajashekhar, Anuranjan Anand

Research output: Contribution to journalArticle

Abstract

Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity.

Original languageEnglish (US)
Pages (from-to)11-19
Number of pages9
JournalAnnals of Human Genetics
Volume80
Issue number1
DOIs
StatePublished - Jan 1 2016

Fingerprint

Ichthyosis
Gap Junctions
Hearing Loss
Skin
Mutation
Cytoplasm
Chromosomes
Genome
Phenotype
Genes
neurobiotin

Keywords

  • Connexin30
  • Cutaneous nodules
  • Gap junction
  • Ichthyosis
  • Neurobiotin
  • Palmoplantar keratoderma
  • Sensorineural hearing loss

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. / Pandey, Nishtha; Xavier, Dennis F.; Chatterjee, Arunima; Mani, Ram Shankar; Hiremagalore, Ravi; Tharakan, Ajith; Rajashekhar, B.; Anand, Anuranjan.

In: Annals of Human Genetics, Vol. 80, No. 1, 01.01.2016, p. 11-19.

Research output: Contribution to journalArticle

Pandey, Nishtha ; Xavier, Dennis F. ; Chatterjee, Arunima ; Mani, Ram Shankar ; Hiremagalore, Ravi ; Tharakan, Ajith ; Rajashekhar, B. ; Anand, Anuranjan. / Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma. In: Annals of Human Genetics. 2016 ; Vol. 80, No. 1. pp. 11-19.
@article{a51a3b9110c64ad5a82f8c36e662ab6d,
title = "Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma",
abstract = "Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity.",
keywords = "Connexin30, Cutaneous nodules, Gap junction, Ichthyosis, Neurobiotin, Palmoplantar keratoderma, Sensorineural hearing loss",
author = "Nishtha Pandey and Xavier, {Dennis F.} and Arunima Chatterjee and Mani, {Ram Shankar} and Ravi Hiremagalore and Ajith Tharakan and B. Rajashekhar and Anuranjan Anand",
year = "2016",
month = "1",
day = "1",
doi = "10.1111/ahg.12141",
language = "English (US)",
volume = "80",
pages = "11--19",
journal = "Annals of Human Genetics",
issn = "0003-4800",
publisher = "Wiley-Blackwell",
number = "1",

}

TY - JOUR

T1 - Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma

AU - Pandey, Nishtha

AU - Xavier, Dennis F.

AU - Chatterjee, Arunima

AU - Mani, Ram Shankar

AU - Hiremagalore, Ravi

AU - Tharakan, Ajith

AU - Rajashekhar, B.

AU - Anand, Anuranjan

PY - 2016/1/1

Y1 - 2016/1/1

N2 - Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity.

AB - Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity.

KW - Connexin30

KW - Cutaneous nodules

KW - Gap junction

KW - Ichthyosis

KW - Neurobiotin

KW - Palmoplantar keratoderma

KW - Sensorineural hearing loss

UR - http://www.scopus.com/inward/record.url?scp=84955212922&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84955212922&partnerID=8YFLogxK

U2 - 10.1111/ahg.12141

DO - 10.1111/ahg.12141

M3 - Article

VL - 80

SP - 11

EP - 19

JO - Annals of Human Genetics

JF - Annals of Human Genetics

SN - 0003-4800

IS - 1

ER -