Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.
Familial lattice corneal dystrophy type I (LCD1) is a localized form of inherited amyloidosis limited to the corneal stroma. Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn). In this paper we exclude the gelsolin gene as the cause of the autosomal dominant form of isolated LCD1.
Wiens
A
A
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Marles
S
S
Safneck
J
J
Kwiatkowski
D J
DJ
Maury
C P
CP
Zelinski
T
T
Philipps
S
S
Ekins
M B
MB
Greenberg
C R
CR
D000686:Amyloidosis / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005260:Female; D018260:Gelsolin; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D002135:Calcium-Binding Proteins; D018260:Gelsolin; D008840:Microfilament Proteins