Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region-Reference-Cited by-同舟云学术

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

Published:2016-09-08 Issue:2 Volume:62 Page:229-234
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Benito-Sanz Sara,Belinchon-Martínez Alberta,Aza-Carmona Miriam,de la Torre Carolina,Huber Celine,González-Casado Isabel,Ross Judith L,Thomas N Simon,Zinn Andrew R,Cormier-Daire Valerie,Heath Karen E

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg2016113.pdf

Reference40 articles.

1. Ellison, J. W., Wardak, Z., Young, M. F., Gehron-Robey, P., Laig-Webster, M. & Chiong, W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum. Mol. Genet. 6, 1341–1347 (1997).

2. Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A. et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet. 16, 54–63 (1997).

3. Rao, E., Blaschke, R. J., Marchini, A., Niesler, B., Burnett, M. & Rappold, G. A. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum. Mol. Genet. 10, 3083–3091 (2001).

4. Blaschke, R. J., Topfer, C., Marchini, A., Steinbeisser, H., Jansen, J. W. G. & Rappold, G. U. Transcriptional and translational regulation of the Léri-Weill and Turner syndrome homeobox gene SHOX. J. Biol. Chem. 278, 47839–47826 (2003).

5. Fukami, M., Okuyama, T., Yamamori, S., Nishimura, G. & Ogata, T. Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Léri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am. J. Med. Genet. A 137, 72–76 (2005).

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