PMID- 10369879
OWN - NLM
STAT- MEDLINE
DCOM- 19990816
LR  - 20220310
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 7
DP  - 1999 Jul
TI  - Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in
      four DFNA2 families.
PG  - 1321-8
AB  - We have previously found linkage to chromosome 1p34 in five large families with
      autosomal dominant non-syndromic hearing impairment (DFNA2). In all five
      families, the connexin31 gene ( GJB3 ), located at 1p34 and responsible for
      non-syndromic autosomal dominant hearing loss in two small Chinese families, has 
      been excluded as the responsible gene. Recently, a fourth member of the KCNQ
      branch of the K+channel family, KCNQ4, has been cloned. KCNQ4 was mapped to
      chromosome 1p34 and a single mutation was found in three patients from a small
      French family with non-syndromic autosomal dominant hearing loss. In this study, 
      we have analysed the KCNQ4 gene for mutations in our five DFNA2 families.
      Missense mutations altering conserved amino acids were found in three families
      and an inactivating deletion was present in a fourth family. No KCNQ4 mutation
      could be found in a single DFNA2 family of Indonesian origin. These results
      indicate that at least two and possibly three genes responsible for hearing
      impairment are located close together on chromosome 1p34 and suggest that KCNQ4
      mutations may be a relatively frequent cause of autosomal dominant hearing loss.
FAU - Coucke, P J
AU  - Coucke PJ
AD  - Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, 
      2610 Antwerp, Belgium,
FAU - Van Hauwe, P
AU  - Van Hauwe P
FAU - Kelley, P M
AU  - Kelley PM
FAU - Kunst, H
AU  - Kunst H
FAU - Schatteman, I
AU  - Schatteman I
FAU - Van Velzen, D
AU  - Van Velzen D
FAU - Meyers, J
AU  - Meyers J
FAU - Ensink, R J
AU  - Ensink RJ
FAU - Verstreken, M
AU  - Verstreken M
FAU - Declau, F
AU  - Declau F
FAU - Marres, H
AU  - Marres H
FAU - Kastury, K
AU  - Kastury K
FAU - Bhasin, S
AU  - Bhasin S
FAU - McGuirt, W T
AU  - McGuirt WT
FAU - Smith, R J
AU  - Smith RJ
FAU - Cremers, C W
AU  - Cremers CW
FAU - Van de Heyning, P
AU  - Van de Heyning P
FAU - Willems, P J
AU  - Willems PJ
FAU - Smith, S D
AU  - Smith SD
FAU - Van Camp, G
AU  - Van Camp G
LA  - eng
GR  - P20RR11145-01/RR/NCRR NIH HHS/United States
GR  - R01 DC02942-03/DC/NIDCD NIH HHS/United States
GR  - R01DCO2842/DC/NIDCD NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Genetic Markers)
RN  - 0 (KCNQ Potassium Channels)
RN  - 0 (KCNQ4 protein, human)
RN  - 0 (Potassium Channels)
RN  - 0 (Potassium Channels, Voltage-Gated)
SB  - IM
MH  - Amino Acid Sequence
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1
MH  - DNA Mutational Analysis
MH  - Deafness/*genetics
MH  - Expressed Sequence Tags
MH  - Female
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Humans
MH  - KCNQ Potassium Channels
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Potassium Channels/*genetics
MH  - *Potassium Channels, Voltage-Gated
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
EDAT- 1999/06/17 00:00
MHDA- 1999/06/17 00:01
CRDT- 1999/06/17 00:00
PHST- 1999/06/17 00:00 [pubmed]
PHST- 1999/06/17 00:01 [medline]
PHST- 1999/06/17 00:00 [entrez]
AID - ddc143 [pii]
AID - 10.1093/hmg/8.7.1321 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321.