REVIEW

Cell Research (2004); 14(3): 179-187

Answering a century old riddle: brachydactyly type A1

Bo Gao^{2, 3}, Lin He^{1, 2}

¹Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.
²Neuropsychiatric and Human Genetics Group, Bio-X Life Science Research Center, Shanghai Jiaotong University, Shanghai 200030, China.
³Department of Biochemistry, Faculty of Medicine, The University of Hong Kong, Hong Kong, China.

Correspondence: Lin HE +86-21-64717740 (phone) +86-21-64717740 (fax) helin@nhgg.org

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Abstract

In 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of the autosomal dominant Mendelian trait. In 1951, Bell classified this type of brachydactyly as type A1 (BDA1). Over 100 cases from different ethnic groups have so far been reported. However, the real breakthrough in identifying the cause of BDA1 has only taken place in the last few years with the progress of the mapping and identification of one of the genes responsible for this disorder, thus providing an answer for a century old riddle. In this article, we attempt to review the current state of knowledge on the genetic features of BDA1 with its century-old history and signalling pathway of IHH, and also discuss genotype-phenotype correlation not only of BDA1, but also of all types of brachydactyly.

Keywords: Brachydactyly, IHH, GDF5, ROR2, BMPRIB.