Abstract

Achondroplasia (ACH) is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. The combined frequency of the disease has been estimated to be 1 in 15 000 live births. 1 ACH is inherited in autosomal dominant fashion with a complete penetrance, more than 80% of affected individuals have de novo mutations associated with increased paternal age.
ACH is caused by mutations in FGFR3 gene, which contains 19 exons spanning 16.5 kb and encodes a membrane-spanning tyrosine kinase receptor of 806 amino acids. 2 The fibroblast growth factor 3 is one member of the family of polypeptide growth factors involved in a variety of activities, including mitogenesis, angiogenesis and wound healing. FGFR3 contains …

Date

2007

Authors

Shi-rong Zhang, Xiao-qing Zhou, REN Xiang, Tian-tian Wang, Ming-xiong Yuan, WANG Qing, Jing-yu Liu, Mu-gen Liu

Journal

Chinese medical journal

Volume

120

Issue

11

Pages

1017-1019

Publisher

LWW