Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

Katja U. Schneider, Nitin Sabherwal, Karin Jantz, Ralph Röth, Nadja Muncke, Werner F. Blum, Gordon B. Cutler, Gudrun Rappold

    Research output: Contribution to journalArticlepeer-review


    Human growth is influenced not only by environmental and internal factors but also by a large number of different genes. One of these genes, SHOX, is believed to play a major role in growth, since defects in this homeobox-containing gene on the sex chromosomes lead to syndromal short stature (Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic short stature. We have analyzed 118 unrelated patients with Léri-Weill dyschondrosteosis and >1,500 patients with idiopathic short stature for deletions encompassing SHOX. Deletions were detected in 34% of the patients with Léri-Weill dyschondrosteosis and in 2% of the patients with idiopathic short stature. For 27 patients with Léri-Weill dyschondrosteosis and for 6 with idiopathic short stature, detailed deletion mapping was performed. Analysis was performed by polymerase chain reaction with the use of pseudoautosomal polymorphic markers and by fluorescence in situ hybridization with the use of cosmid clones. Here, we show that, although the identified deletions vary in size, the vast majority (73%) of patients tested share a distinct proximal deletion breakpoint. We propose that the sequence present within this proximal deletion breakpoint "hotspot" region predisposes to recurrent breaks. © 2005 by The American Society of Human Genetics. All rights reserved.
    Original languageEnglish
    Pages (from-to)89-96
    Number of pages7
    JournalAmerican Journal of Human Genetics
    Issue number1
    Publication statusPublished - Jul 2005


    Dive into the research topics of 'Identification of a major recombination hotspot in patients with short stature and SHOX deficiency'. Together they form a unique fingerprint.

    Cite this