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Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
Author(s) -
Newman William G.,
ClaytonSmith Jill,
Metcalfe Kay,
Cole Rachel,
Tartaglia Marco,
Brancati Francesco,
Morara Sara,
Novelli Antonio,
Liu Xiangdong,
Siminovitch Katherine A.,
Mundlos Stefan,
Tassabehji May,
Black Graeme C.M.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32564
Subject(s) - locus (genetics) , genetics , candidate gene , osteogenesis imperfecta , gene , biology , allele , chromosome , chromosomal region , disease gene identification , mutation , anatomy , exome sequencing
Important insights into the etiology of osteoporosis have been gained by the study of single gene disorders, including osteogenesis imperfecta. We report on the genetic mapping of geroderma osteodysplastica (GO), a rare autosomal recessive disorder of the connective tissue, characterized by wrinkly skin and severe osteoporosis. We undertook autozygosity mapping in one Libyan and four consanguineous Pakistani families with a total of 10 affected individuals to define a 4 Mb homozygous region on chromosome 1q24, which harbors the GO causative gene. No obvious candidate genes that encode known protein constituents of the extracellular matrix are found in the linked region. Importantly, our study demonstrates that GO is not allelic to wrinkly skin syndrome caused by mutations in ATP6V0A2 . © 2008 Wiley‐Liss, Inc.