PMID- 10425035
OWN - NLM
STAT- MEDLINE
DCOM- 19990820
LR  - 20090929
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 2
DP  - 1999
TI  - Heterogeneity in granular corneal dystrophy: identification of three causative
      mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.
PG  - 126-32
AB  - Six autosomal dominant corneal dystrophies are caused by mutations in the TGFBI
      (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), 
      including type I and type IIIA, granular, Avellino (ACD), and Reis-Bucklers.
      Initially an exact genotype-phenotype correlation was reported. We report three
      families, with differing clinical features, all presenting with "granular"
      corneal dystrophy. We analysed the TGFBI gene by SSCP analysis and direct
      sequencing in order to further assess the genotype-phenotype correlation. We
      describe three separate mutations in TGFBI: one novel, one initially described as
      causing ACD, and one previously described. The novel mutation, R124S, is at the
      identical position to the mutation causing LCD type I (CDL1). We review the
      clinical and histological phenotypes of the corneal dystrophies and hypothesize
      that the ability of a mutation to cause amyloid deposition depends on the
      location and nature of the mutation. In addition, we suggest that the
      classification of the granular corneal dystrophies be revised according to
      mutation type and that ACD should not be classified as a distinct morphological
      entity.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Stewart, H S
AU  - Stewart HS
AD  - Department of Medical Genetics and Regional Genetics Service, St Mary's Hospital,
      Manchester, UK.
FAU - Ridgway, A E
AU  - Ridgway AE
FAU - Dixon, M J
AU  - Dixon MJ
FAU - Bonshek, R
AU  - Bonshek R
FAU - Parveen, R
AU  - Parveen R
FAU - Black, G
AU  - Black G
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Amyloid)
RN  - 0 (Transforming Growth Factor beta)
SB  - IM
MH  - Amyloid/metabolism
MH  - Chromosomes, Human, Pair 5/genetics
MH  - Cornea/metabolism/pathology
MH  - Corneal Dystrophies, Hereditary/classification/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genotype
MH  - Histocytochemistry
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/*genetics
MH  - Phenotype
MH  - Polymorphism, Single-Stranded Conformational
MH  - Transforming Growth Factor beta/*genetics
EDAT- 1999/07/29 00:00
MHDA- 1999/07/29 00:01
CRDT- 1999/07/29 00:00
PHST- 1999/07/29 00:00 [pubmed]
PHST- 1999/07/29 00:01 [medline]
PHST- 1999/07/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(2):126-32. doi:
      10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W.