How to cite this article: Comstock JM, Putnam AR, Sangle N, Lowichik A, Rose NC, Opitz JM. 2010. Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. Am J Med Genet Part A 152A:1822–1824.
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism†
Article first published online: 25 JUN 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 7, pages 1822–1824, July 2010
How to Cite
Comstock, J. M., Putnam, A. R., Sangle, N., Lowichik, A., Rose, N. C. and Opitz, J. M. (2010), Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. Am. J. Med. Genet., 152A: 1822–1824. doi: 10.1002/ajmg.a.33463
- Issue published online: 25 JUN 2010
- Article first published online: 25 JUN 2010
- Manuscript Accepted: 4 MAR 2010
- Manuscript Received: 31 DEC 2009
- COL2A1 mutations;
- germline mosaicism
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1). Familial cases have been reported, suggesting both germline and somatic mosaicism. We report on two pregnancies from the same couple with gross, radiologic, and microscopic findings of ACG2. Molecular analysis of the second infant demonstrated heterozygosity for a c.2303G > A transition (p.Gly768Asp) in exon 33 of the COL2A1 gene. Although this mutation could not be proven by molecular studies in the first infant, identical findings in two affected pregnancies support germline mosaicism as the cause of ACG2 in this family. © 2010 Wiley-Liss, Inc.