Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

William G. Newman, Jill Clayton-Smith, Kay Metcalfe, Rachel Cole, Marco Tartaglia, Francesco Brancati, Sara Morara, Antonio Novelli, Xiangdong Liu, Katherine A. Siminovitch, Stefan Mundlos, May Tassabehji, Graeme C M Black

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)3034-3037
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number23
Publication statusPublished - Dec 1 2008


  • Autozygosity
  • Chromosome 1q24
  • Geroderma osteodysplastica
  • Osteoporosis
  • Wrinkly skin

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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