PMID- 10660331
OWN - NLM
STAT- MEDLINE
DCOM- 20000201
LR  - 20041117
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 3
DP  - 1998
TI  - A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian
      Reis Bucklers corneal dystrophy patients. Mutations in brief no. 180. Online.
PG  - 215-6
AB  - Reis-Bucklers' corneal dystrophy (RBCD) is a relatively rare autosomal dominant
      disease originating in the Bowman's membrane, which causes severe visual
      impairment. Recently RBCD, together with lattice corneal dystrophy type I (LCDI),
      granular corneal dystrophy (CDGG1) and Avellino stromal dystrophy (ASD), all
      mapped on 5q31, were found to be associated to four different mutations in the
      beta ig-h3 gene which codify for kerato-epithelin. We identified several cases of
      RBCD in Sardinia. We reconstructed through genealogical search two eight
      generation-families, originating from the same village (Arbus), indicating a
      common ancestor for RBCD in Sardinia. Linkage studies on these families confirmed
      the association of the disease with the 5q31 region. Sequence analysis of beta
      ig-h3 gene revealed a trinucleotide deletion in exon 12, corresponding to the
      loss of F540 in the protein sequence (delta F540). Our data describe a new
      mutation in the beta ig-h3 gene causing RBCD. This dominant negative mutation is 
      located in the fourth internal repeat of kerato-epithelin which is a protein
      domain highly conserved across species. This suggests the basic role of this
      domain in maintaining the proper kerato-epithelin structure which when altered
      can cause the typical precipitates in the RBCD cornea.
FAU - Rozzo, C
AU  - Rozzo C
AD  - Istituto di Genetica Molecolare, C.N.R., Alghero, Italy. cr@igm.ss.cnr.it
FAU - Fossarello, M
AU  - Fossarello M
FAU - Galleri, G
AU  - Galleri G
FAU - Sole, G
AU  - Sole G
FAU - Serru, A
AU  - Serru A
FAU - Orzalesi, N
AU  - Orzalesi N
FAU - Serra, A
AU  - Serra A
FAU - Pirastu, M
AU  - Pirastu M
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Extracellular Matrix Proteins)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Transforming Growth Factor beta)
RN  - 148710-76-3 (betaIG-H3 protein)
SB  - IM
MH  - Chromosomes, Human, Pair 5/genetics
MH  - Corneal Dystrophies, Hereditary/*genetics
MH  - *Extracellular Matrix Proteins
MH  - Humans
MH  - Mutation/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Transforming Growth Factor beta/genetics
EDAT- 2000/02/05 00:00
MHDA- 2000/02/05 00:01
CRDT- 2000/02/05 00:00
PHST- 2000/02/05 00:00 [pubmed]
PHST- 2000/02/05 00:01 [medline]
PHST- 2000/02/05 00:00 [entrez]
PST - ppublish
SO  - Hum Mutat. 1998;12(3):215-6.