Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1.
Weill-Marchesani syndrome comprises short stature, brachydactyly, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600). We present two families each with affected individuals in 3 generations demonstrating autosomal dominant inheritance of Weill-Marchesani syndrome. Linkage analysis in these 2 families suggests a gene for Weill-Marchesani syndrome maps to 15q21.1. The dislocated lenses and connective tissue disorder in these families suggests that fibrillin-1 and microfibril-associated protein 1, which both map to 15q21.1, are candidate genes for Weill-Marchesani syndrome. Immunohistochemistry staining of skin sections from family 1 showed an apparent decrease in fibrillin staining compared to control individuals.
Wirtz
M K
MK
Department of Ophthalmology, Casey Eye Institute, Oregon Health Sciences University, Portland 97201-4197, USA.
Samples
J R
JR
Kramer
P L
PL
Rust
K
K
Yount
J
J
Acott
T S
TS
Koler
R D
RD
Cisler
J
J
Jahed
A
A
Gorlin
R J
RJ
Godfrey
M
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D004392:Dwarfism / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007158:Immunologic Techniques; D007223:Infant; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines