PMID- 10480374
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 105
IP  - 1-2
DP  - 1999 Jul-Aug
TI  - Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent
      cataract of Pakistani origin.
PG  - 168-70
AB  - Inherited cataract is a clinically and genetically heterogeneous disease that
      most often presents as a congenital autosomal dominant trait. Here we report
      linkage of a three-generation family of Pakistani origin with autosomal dominant 
      cataract "zonular nuclear" pulverulent type (CZNP) on chromosome 1q21.1. Genome
      wide-linkage analysis excluded all the known cataract loci except on chromosome
      1q. Significantly positive 2-point lod score values (Z=3.01 at theta=0) were
      obtained for markers D1S305 and D1S2721, which are known to flank the gene for
      connexin 50 (Cx50) or gap junction protein alpha-8 (Gja8). Previously a mutation 
      in this gene has been reported in a British family with zonular pulverulent
      cataract (CZP). Here we describe a second mutation (E48K) in connexin 50 that
      confirms the involvement of this gene in cataractogenesis.
FAU - Berry, V
AU  - Berry V
AD  - Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
      vberry@hgmp.mrc.ac.uk
FAU - Mackay, D
AU  - Mackay D
FAU - Khaliq, S
AU  - Khaliq S
FAU - Francis, P J
AU  - Francis PJ
FAU - Hameed, A
AU  - Hameed A
FAU - Anwar, K
AU  - Anwar K
FAU - Mehdi, S Q
AU  - Mehdi SQ
FAU - Newbold, R J
AU  - Newbold RJ
FAU - Ionides, A
AU  - Ionides A
FAU - Shiels, A
AU  - Shiels A
FAU - Moore, T
AU  - Moore T
FAU - Bhattacharya, S S
AU  - Bhattacharya SS
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Connexins)
RN  - 0 (Eye Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (connexin 50)
SB  - IM
MH  - Cataract/*congenital/*genetics
MH  - Connexins
MH  - Eye Proteins/*genetics/physiology
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - Male
MH  - Models, Biological
MH  - *Mutation, Missense
MH  - Pakistan
MH  - Phenotype
EDAT- 1999/09/10 00:00
MHDA- 1999/09/10 00:01
CRDT- 1999/09/10 00:00
PHST- 1999/09/10 00:00 [pubmed]
PHST- 1999/09/10 00:01 [medline]
PHST- 1999/09/10 00:00 [entrez]
AID - 10.1007/s004399900094 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Jul-Aug;105(1-2):168-70. doi: 10.1007/s004399900094.