Ontology highlight
ABSTRACT:
SUBMITTER: Lamb AN
PROVIDER: S-EPMC3618980 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Lamb Allen N AN Rosenfeld Jill A JA Neill Nicholas J NJ Talkowski Michael E ME Blumenthal Ian I Girirajan Santhosh S Keelean-Fuller Debra D Fan Zheng Z Pouncey Jill J Stevens Cathy C Mackay-Loder Loren L Terespolsky Deborah D Bader Patricia I PI Rosenbaum Kenneth K Vallee Stephanie E SE Moeschler John B JB Ladda Roger R Sell Susan S Martin Judith J Ryan Shawnia S Jones Marilyn C MC Moran Rocio R Shealy Amy A Madan-Khetarpal Suneeta S McConnell Juliann J Surti Urvashi U Delahaye Andrée A Heron-Longe Bénédicte B Pipiras Eva E Benzacken Brigitte B Passemard Sandrine S Verloes Alain A Isidor Bertrand B Le Caignec Cedric C Glew Gwen M GM Opheim Kent E KE Descartes Maria M Eichler Evan E EE Morton Cynthia C CC Gusella James F JF Schultz Roger A RA Ballif Blake C BC Shaffer Lisa G LG
Human mutation 20120401 4
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent), and seven individuals with larger 12p12 deletions encompassing SOX5. ...[more]