Alternatively, some unidentified genetic factor might correlate with HOXD13 mutations, resulting in different phenotypes. In summary, based on this Chinese family with distinct clinical features characterized by milder manifestations with bilateral clinodactyly, it is useful for clinicians to further understand SPD according to these findings. The novel mutation c.659G>C (p.Gly220Ala) accounted for the
clinical phenotype. This mutation located outside the homeodomain of HOXD13, where mutation has been rarely reported. A loss of function was predicted for this mutation, so functional analysis was conducted. The results showed that this mutation caused a 16% reduction in activating transcription. Further studies learn more are needed to explore the detailed mechanisms. None. We are grateful to Weihong Yang for the technical assistance. This study was supported by grants from Doctoral Startup Project of Guangdong Natural Science Foundation (S201204006336), Specialized
Research Fund for the Doctoral Program of Higher Education (SRFDP) (2012171120075), grants from the PD0325901 National High Technology Research and Development Program of China (contract grant number: 2012AA020507), the National Nature Science Grant of China (30700847), the Combined Grant of Guangdong and Ministry of Education of China (2007B090400090), and the Key Project of Nature Science science Grant of Guangdong China (9251008901000017). “
“Figure options Download full-size image Download high-quality image (192 K) Download as PowerPoint slide Gregory Robert Mundy was born on June 23, 1942 and passed away at his home in San Antonio on February 25, 2010 after an illness that began in late 2008. He entered
the field of bone research early in the 1970s with major successes, and rapidly became an outstanding contributor in bone cell biology and translation of its research to clinical medicine, with a career that continued increasing in the depth and breadth of its impact. In the last few years of that career, he was Director of the Vanderbilt Center in Bone Biology, the John A. Oates Chair in Translational Medicine and Professor of Medicine, Pharmacology, Orthopedics and Cancer Biology at Vanderbilt University, Nashville, Tennessee. Born in Templestowe, on the rural outskirts of Melbourne, Greg was one of two children of orchardists Robert and Hilda Joyce Mundy. He was educated first at the tiny local school, where he recalled something of a frontier atmosphere, with hitching posts for those children who rode horses to school. He completed schooling at Trinity Grammar School, where he excelled at cricket, played in the orchestra, edited the school magazine, was Vice-Captain of the school and Dux of Maths and Sciences. His compulsion to work and need to succeed was evident even then in ways that made his subsequent career easy to understand.