Enhancer mutations of the SHOX gene as a frequent cause of short stature - the essential role of a 250 kb downstream regulatory domain

Jianjun Chen (1) , Gabriele Wildhardt (2) , Zilin Zhong (1) , Ralph Roeth (1) , Birgit Weiss (1) , Daniela Steinberger (2) , Jochen Decker (2) , Werner F Blum (3) , Gudrun A Rappold (1)

1 Department of Molecular Human Genetics
2 Bioscientia Institute of Med. Diagnostics, Ingelheim
3 Eli Lilly and Company, Lilly Research Laboratories Bad Homburg

Mutations and deletions of the homeobox transcription factor gene are known to cause short stature. We have analyzed SHOX enhancer regions in a large cohort of short stature patients to study the importance of regulatory regions in developmentally relevant genes like .

Mots clés: Endocrinology; Genetics; Molecular genetics

Jianjun Chen, Gabriele Wildhardt, Zilin Zhong, Ralph Roeth, Birgit Weiss, et al.. Enhancer mutations of the SHOX gene as a frequent cause of short stature - the essential role of a 250 kb downstream regulatory domain. Journal of Medical Genetics, 2009, 46 (12), pp.834. ⟨10.1136/jmg.2009.067785⟩. ⟨hal-00552699⟩