PMID- 10633135
OWN - NLM
STAT- MEDLINE
DCOM- 20000218
LR  - 20201113
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 37
IP  - 1
DP  - 2000 Jan
TI  - A connexin 26 mutation causes a syndrome of sensorineural hearing loss and
      palmoplantar hyperkeratosis (MIM 148350).
PG  - 50-1
AB  - We report a missense mutation in the connexin 26 gene (GJB2) in a family with an 
      autosomal dominant syndrome of hearing loss and hyperkeratosis. The affected
      family members have high frequency, slowly progressive, bilateral, sensorineural 
      hearing loss and palmoplantar hyperkeratosis. The mutation causes an amino acid
      substitution (G59A), which may disrupt a reverse turn in the first extracellular 
      loop of connexin 26. Connexin 26 mutations have been reported in syndromes of
      deafness and palmoplantar keratoderma. These data provide additional evidence for
      the role of connexin 26 in syndromes of this type.
FAU - Heathcote, K
AU  - Heathcote K
AD  - Medical Genetics Unit, St George's Hospital Medical School, Tooting, London SW17 
      0RE, UK.
FAU - Syrris, P
AU  - Syrris P
FAU - Carter, N D
AU  - Carter ND
FAU - Patton, M A
AU  - Patton MA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (Connexins)
RN  - 0 (GJB2 protein, human)
RN  - 127120-53-0 (Connexin 26)
SB  - IM
MH  - Amino Acid Substitution
MH  - Connexin 26
MH  - Connexins/*genetics
MH  - Exons
MH  - Female
MH  - Hearing Loss, Sensorineural/*genetics
MH  - Humans
MH  - Keratoderma, Palmoplantar/*genetics
MH  - Male
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - Syndrome
PMC - PMC1734451
EDAT- 2000/01/14 09:00
MHDA- 2000/02/26 09:00
CRDT- 2000/01/14 09:00
PHST- 2000/01/14 09:00 [pubmed]
PHST- 2000/02/26 09:00 [medline]
PHST- 2000/01/14 09:00 [entrez]
AID - 10.1136/jmg.37.1.50 [doi]
PST - ppublish
SO  - J Med Genet. 2000 Jan;37(1):50-1. doi: 10.1136/jmg.37.1.50.