How to cite this article: Lodder EM, Hoogeboom AJM, Coert JH, de Graaff E. 2008. Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. Am J Med Genet Part A 146A:2152–2154.
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1†
Article first published online: 15 JUL 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 16, pages 2152–2154, 15 August 2008
How to Cite
Lodder, E.M., Hoogeboom, A.J.M., Coert, J.H. and de Graaff, E. (2008), Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. Am. J. Med. Genet., 146A: 2152–2154. doi: 10.1002/ajmg.a.32441
- Issue published online: 25 JUL 2008
- Article first published online: 15 JUL 2008
- Manuscript Accepted: 19 MAY 2008
- Manuscript Received: 11 JAN 2008
- Nederlandse organisatie voor Wetenschappelijk Onderzoek. Grant Number: 016.056.320
- brachydactyly type A1;
- limb development;
- congenital malformation;
- Indian hedgehog
Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog (IHH) gene were shown to be the cause of this autosomal dominant disorder. The IHH protein is known to be an important signaling molecule involved in chondrocyte formation. So far, only missense mutations in IHH have been reported to cause BrachydactylyA1. We report here on the first deletion in IHH, p.delE95, causing mild BrachydactylyA1 in a small Dutch family. This brings the total number of different mutations found to cause BDA1 to 7. © 2008 Wiley-Liss, Inc.