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 thi...

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Veröffentlicht in:	American journal of human genetics 1992-07, Vol.51 (1), p.156-160
Hauptverfasser:	WIENS, A, MARLES, S, SAFNECK, J, KWIATKOWSKI, D. J, MAURY, D. P. J, ZELINSKI, T, PHILIPPS, S, EKINS, M. B, GREENBERG, C. R
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyloidosis - genetics Biological and medical sciences Calcium-Binding Proteins - genetics chromosome 9 Chromosome Deletion Corneal Dystrophies, Hereditary - genetics Diseases of cornea, anterior segment and sclera Female Gelsolin genes Genetic Linkage Humans lattice corneal dystrophy linkage analysis Male man Medical sciences Microfilament Proteins - genetics Ophthalmology Pedigree Polymorphism, Genetic Repetitive Sequences, Nucleic Acid type I
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Zusammenfassung:	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.
ISSN:	0002-9297 1537-6605