Three autosomal dominant corneal dystrophies map to chromosome 5q

Edwin M. Stone; William D. Mathers; George O.D. Rosenwasser; Edward J. Holland; Robert Folberg; Jay H. Krachmer; Brian E. Nichols; Peter D. Gorevic; Chris M. Taylor; Luan M. Streb; Jill A. Fishbaugh; Thomas E. Daley; Brian M. Sucheski; Val C. Sheffield

doi:10.1038/ng0194-47

Three autosomal dominant corneal dystrophies map to chromosome 5q

Edwin M. Stone, William D. Mathers, George O.D. Rosenwasser, Edward J. Holland, Robert Folberg, Jay H. Krachmer, Brian E. Nichols, Peter D. Gorevic, Chris M. Taylor, Luan M. Streb, Jill A. Fishbaugh, Thomas E. Daley, Brian M. Sucheski, Val C. Sheffield

Research output: Contribution to journal › Article › peer-review

158 Scopus citations

Abstract

The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease–causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid–associated genes map to chromosome 5.

Original language	English
Pages (from-to)	47-51
Number of pages	5
Journal	Nature Genetics
Volume	6
Issue number	1
DOIs	https://doi.org/10.1038/ng0194-47
State	Published - Jan 1994
Externally published	Yes

Access to Document

10.1038/ng0194-47

Cite this

@article{1b7b29423e7a4744acfc0a4290025dbc,

title = "Three autosomal dominant corneal dystrophies map to chromosome 5q",

abstract = "The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease–causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid–associated genes map to chromosome 5.",

author = "Stone, {Edwin M.} and Mathers, {William D.} and Rosenwasser, {George O.D.} and Holland, {Edward J.} and Robert Folberg and Krachmer, {Jay H.} and Nichols, {Brian E.} and Gorevic, {Peter D.} and Taylor, {Chris M.} and Streb, {Luan M.} and Fishbaugh, {Jill A.} and Daley, {Thomas E.} and Sucheski, {Brian M.} and Sheffield, {Val C.}",

year = "1994",

month = jan,

doi = "10.1038/ng0194-47",

language = "English",

volume = "6",

pages = "47--51",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "1",

}

TY - JOUR

T1 - Three autosomal dominant corneal dystrophies map to chromosome 5q

AU - Stone, Edwin M.

AU - Mathers, William D.

AU - Rosenwasser, George O.D.

AU - Holland, Edward J.

AU - Folberg, Robert

AU - Krachmer, Jay H.

AU - Nichols, Brian E.

AU - Gorevic, Peter D.

AU - Taylor, Chris M.

AU - Streb, Luan M.

AU - Fishbaugh, Jill A.

AU - Daley, Thomas E.

AU - Sucheski, Brian M.

AU - Sheffield, Val C.

PY - 1994/1

Y1 - 1994/1

N2 - The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease–causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid–associated genes map to chromosome 5.

AB - The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease–causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid–associated genes map to chromosome 5.

UR - http://www.scopus.com/inward/record.url?scp=0028223723&partnerID=8YFLogxK

U2 - 10.1038/ng0194-47

DO - 10.1038/ng0194-47

M3 - Article

C2 - 8136834

AN - SCOPUS:0028223723

SN - 1061-4036

VL - 6

SP - 47

EP - 51

JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -

Three autosomal dominant corneal dystrophies map to chromosome 5q

Abstract

Access to Document

Fingerprint

Cite this