PMID- 10331951
OWN - NLM
STAT- MEDLINE
DCOM- 19990706
LR  - 20171116
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 58
IP  - 1
DP  - 1999 May 15
TI  - Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
PG  - 98-101
AB  - Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with
      a juvenile age of onset. Mutations in the Bestrophin gene were shown in patients 
      affected with VMD2. In a mutation study, we made three new and interesting
      observations. First, we identified possible mutation hotspots within the gene,
      suggesting that particular regions of the protein have greater functional
      significance than others. Second, we described a 2-bp deletion in a part of the
      gene where mutations have not previously been reported; this mutation causes a
      frameshift and subsequent premature termination of the protein. Finally, we have 
      evidence that some mutations are associated with variable expression of the
      disease, suggesting the involvement of other factors or genes in the disease
      phenotype.
CI  - Copyright 1999 Academic Press.
FAU - Caldwell, G M
AU  - Caldwell GM
AD  - Department of Cancer Genetics, Roswell Park Cancer Institute, 666 Elm Street,
      Buffalo, New York 14263, USA.
FAU - Kakuk, L E
AU  - Kakuk LE
FAU - Griesinger, I B
AU  - Griesinger IB
FAU - Simpson, S A
AU  - Simpson SA
FAU - Nowak, N J
AU  - Nowak NJ
FAU - Small, K W
AU  - Small KW
FAU - Maumenee, I H
AU  - Maumenee IH
FAU - Rosenfeld, P J
AU  - Rosenfeld PJ
FAU - Sieving, P A
AU  - Sieving PA
FAU - Shows, T B
AU  - Shows TB
FAU - Ayyagari, R
AU  - Ayyagari R
LA  - eng
GR  - EY7003/EY/NEI NIH HHS/United States
GR  - NIH/EY10514/EY/NEI NIH HHS/United States
GR  - R0106094/PHS 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 (BEST1 protein, human)
RN  - 0 (Bestrophins)
RN  - 0 (Chloride Channels)
RN  - 0 (Eye Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Amino Acid Substitution
MH  - Bestrophins
MH  - Chloride Channels
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Eye Proteins/*genetics
MH  - Family Health
MH  - Female
MH  - Frameshift Mutation
MH  - Humans
MH  - Macular Degeneration/*genetics
MH  - Male
MH  - Mutation
MH  - Mutation, Missense
MH  - Pedigree
MH  - Point Mutation
MH  - Sequence Deletion
EDAT- 1999/05/20 00:00
MHDA- 1999/05/20 00:01
CRDT- 1999/05/20 00:00
PHST- 1999/05/20 00:00 [pubmed]
PHST- 1999/05/20 00:01 [medline]
PHST- 1999/05/20 00:00 [entrez]
AID - S0888-7543(99)95808-1 [pii]
AID - 10.1006/geno.1999.5808 [doi]
PST - ppublish
SO  - Genomics. 1999 May 15;58(1):98-101. doi: 10.1006/geno.1999.5808.