Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

✍ Scribed by Allen N. Lamb; Jill A. Rosenfeld; Nicholas J. Neill; Michael E. Talkowski; Ian Blumenthal; Santhosh Girirajan; Debra Keelean-Fuller; Zheng Fan; Jill Pouncey; Cathy Stevens; Loren Mackay-Loder; Deborah Terespolsky; Patricia I. Bader; Kenneth Rosenbaum; Stephanie E. Vallee; John B. Moeschler; Roger Ladda; Susan Sell; Judith Martin; Shawnia Ryan; Marilyn C. Jones; Rocio Moran; Amy Shealy; Suneeta Madan-Khetarpal; Juliann McConnell; Urvashi Surti; Andrée Delahaye; Bénédicte Heron-Longe; Eva Pipiras; Brigitte Benzacken; Sandrine Passemard; Alain Verloes; Bertrand Isidor; Cedric Le Caignec; Gwen M. Glew; Kent E. Opheim; Maria Descartes; Evan E. Eichler; Cynthia C. Morton; James F. Gusella; Roger A. Schultz; Blake C. Ballif; Lisa G. Shaffer

• Book ID: 102262128
• Publisher: John Wiley and Sons
• Year: 2012
• Tongue: English
• Weight: 475 KB
• Volume: 33
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.22037

✦ Synopsis

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. Common features in these subjects include prominent speech delay, intellectual disability, behavior