Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1

Autor:	M K, Wirtz, J R, Samples, P L, Kramer, K, Rust, J, Yount, T S, Acott, R D, Koler, J, Cisler, A, Jahed, R J, Gorlin, M, Godfrey
Rok vydání:	1996
Předmět:	Adult Male Chromosomes Human Pair 15 Adolescent Genetic Linkage Fibrillin-1 Microfilament Proteins Infant Dwarfism Syndrome Middle Aged Fibrillins Pedigree Child Preschool Immunologic Techniques Humans Abnormalities Multiple Female Eye Abnormalities Child Genes Dominant Microsatellite Repeats
Zdroj:	American journal of medical genetics. 65(1)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::6b5388a383eeeb9635217725635ac0bf https://pubmed.ncbi.nlm.nih.gov/8914744 Zobrazit plný text záznamu Plný text