Grebe type chondrodysplasia a novel missense mutation in a conserved cysteine of the growth differentiation factor 5英文电子书.pdf

J Bone Miner Metab (2008) 26:648–652 © The Japanese Society for Bone and Mineral Research and Springer 2008 DOI 10.1007/s00774-008-0853-5 SHORT COMMUNICATION Muhammad Faiyaz-Ul-Haque · Eissa A. Faqeih Hamad Al-Zaidan · Amal Al-Shammary Syed H.E. Zaidi Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5 Received: November 23, 2007 / Accepted: January 8, 2008 Abstract Grebe-type chondrodysplasia is a congenital skel- abnormalities in heterozygous individuals of Grebe-type etal disorder that is characterized by markedly shortened chondrodysplasia families. limbs and very short digits. This defect has an autosomal recessive mode of inheritance and results from mutations Key words autosomal recessive · CDMP-1 · GDF5 · Grebe- in the growth differentiation factor 5 (GDF5) gene. Here, type chondrodysplasia · mutation in conserved cysteine we report three affected children in a consanguineous family who display typical features of Grebe-type chondro- dysplasia. Sequencing of the GDF5 genes of the affected Introduction children identifi ed a novel c.1285TC mutation encoding a p.Cys429Arg substitution. The Cys429 of human GDF5 Grebe-type chondrodysplasia (OMIM: 200700) is a distinct belongs to a group of seven cysteines, which are highly skeletal disorder in which the limbs, hands, and digits of conserved across species and among the various members affected individuals are severely shortened while their