PMID- 10610709
OWN - NLM
STAT- MEDLINE
DCOM- 20000209
LR  - 20171116
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 62
IP  - 2
DP  - 1999 Dec 1
TI  - Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss:
      molecular cloning, tissue-specific expression, and assignment to chromosome
      13q12.
PG  - 172-6
AB  - Mutations in connexin 26 are responsible for approximately 20% of genetic hearing
      loss and 10% of all childhood hearing loss. However, only about 75% of the
      mutations predicted to be in Cx26 are actually observed. While this may be due to
      mutations in noncoding regulatory regions, an alternative hypothesis is that some
      cases may be due to mutations in another gene immediately adjacent to Cx26.
      Another gap junction gene, connexin 30 (HGMW-approved symbol GJB6), is found to
      lie on the same PAC clone that hybridizes to chromosome 13q12. Human connexin 26 
      and connexin 30 are expressed in the same cells of the cochlea. Cx26 and Cx30
      share 77% identity in amino acid sequence but Cx30 has an additional 37 amino
      acids at its C-terminus. These considerations led us to hypothesize that
      mutations in Cx30 might also be responsible for hearing loss. Eight-eight
      recessive nonsyndromic hearing loss families from both American and Japanese
      populations were screened for mutations. In addition, 23 dominant hearing loss
      families and 6 singleton families presumed to be recessive were tested. No
      significant mutation has been found in the dominant or recessive families.
CI  - Copyright 1999 Academic Press.
FAU - Kelley, P M
AU  - Kelley PM
AD  - Center for Hereditary Communication Disorders, Boys Town National Research
      Hospital, Omaha, Nebraska 68131, USA. kelley@boystown.org
FAU - Abe, S
AU  - Abe S
FAU - Askew, J W
AU  - Askew JW
FAU - Smith, S D
AU  - Smith SD
FAU - Usami, S i
AU  - Usami Si
FAU - Kimberling, W J
AU  - Kimberling WJ
LA  - eng
GR  - P01 DC01813-05/DC/NIDCD NIH HHS/United States
GR  - R01 DC02942-03/DC/NIDCD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Connexin 30)
RN  - 0 (Connexins)
RN  - 0 (DFNA3 protein, human)
RN  - 0 (GJB6 protein, human)
RN  - 0 (Gjb6 protein, mouse)
RN  - 0 (Nerve Tissue Proteins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Chickens
MH  - Child
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Cloning, Molecular
MH  - Connexin 30
MH  - Connexins/biosynthesis/*genetics
MH  - Genes, Dominant
MH  - Genes, Recessive
MH  - Hearing Loss, Sensorineural/*genetics
MH  - Humans
MH  - Male
MH  - Mice
MH  - Molecular Sequence Data
MH  - Mutation, Missense
MH  - Nerve Tissue Proteins/biosynthesis/*genetics
MH  - Organ Specificity/genetics
EDAT- 1999/12/28 00:00
MHDA- 1999/12/28 00:01
CRDT- 1999/12/28 00:00
PHST- 1999/12/28 00:00 [pubmed]
PHST- 1999/12/28 00:01 [medline]
PHST- 1999/12/28 00:00 [entrez]
AID - 10.1006/geno.1999.6002 [doi]
AID - S0888754399960020 [pii]
PST - ppublish
SO  - Genomics. 1999 Dec 1;62(2):172-6. doi: 10.1006/geno.1999.6002.