PMID- 22321824
OWN - NLM
STAT- MEDLINE
DCOM- 20121024
LR  - 20201113
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 76
IP  - 4
DP  - 2012 Apr
TI  - Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 
      mutations in postlingual, non-syndromic, sensorineural deafness.
PG  - 549-51
LID - 10.1016/j.ijporl.2012.01.014 [doi]
AB  - OBJECTIVES: Connexins (Cxs) are membrane-spanning proteins that co-assemble into 
      intercellular gap junction channels. Gap junction channels mediate electrical and 
      biochemical communication between adjacent cells and play vital roles as 
      mediators of intercellular molecular signaling. Cx-linked deafness highlights the 
      key role of gap junctions in the physiological processes of hearing. 
      Co-localization of Cxs with the gap junction system in the inner ear suggests a 
      role in cochlear electrolyte homeostasis. During auditory transduction, they are 
      proposed to maintain membrane potentials by regulating the flow of potassium ions 
      between the sensory epithelia of the inner ear. METHODS: Clinical and molecular 
      genetic methods were employed in a Greek proband presenting with bilateral, 
      postlingual, non-syndromic, sensorineural deafness. RESULTS: We detected a novel 
      c.292C>T (p.R98W) mutation in compound heterozygosity with the c.35delG mutation 
      in the GJB2 gene. CONCLUSION: Although mutations in the GJB2 gene usually cause 
      prelingual, severe to profound deafness, compound heterozygosity of the novel 
      c.292C>T (p.R98W) and the c.35delG GJB2 mutations appears to be the cause of 
      postlingual, moderate, sensorineural deafness in our proband.
CI  - Copyright (c) 2012 Elsevier Ireland Ltd. All rights reserved.
FAU - Petersen, Michael B
AU  - Petersen MB
AD  - Department of Genetics, Institute of Child Health, Aghia Sophia Children's 
      Hospital, Athens, Greece.
FAU - Grigoriadou, Maria
AU  - Grigoriadou M
FAU - Economides, John
AU  - Economides J
FAU - Kokotas, Haris
AU  - Kokotas H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120208
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
RN  - 0 (Connexins)
RN  - 0 (GJB2 protein, human)
RN  - 127120-53-0 (Connexin 26)
SB  - IM
MH  - Age Factors
MH  - Child
MH  - Connexin 26
MH  - Connexins/*genetics
MH  - Female
MH  - Hearing Loss, Sensorineural/*diagnosis/*genetics
MH  - *Heterozygote
MH  - Humans
MH  - Mutation/*genetics
EDAT- 2012/02/11 06:00
MHDA- 2012/10/25 06:00
CRDT- 2012/02/11 06:00
PHST- 2011/11/17 00:00 [received]
PHST- 2012/01/11 00:00 [revised]
PHST- 2012/01/13 00:00 [accepted]
PHST- 2012/02/11 06:00 [entrez]
PHST- 2012/02/11 06:00 [pubmed]
PHST- 2012/10/25 06:00 [medline]
AID - S0165-5876(12)00044-4 [pii]
AID - 10.1016/j.ijporl.2012.01.014 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2012 Apr;76(4):549-51. doi: 
      10.1016/j.ijporl.2012.01.014. Epub 2012 Feb 8.