Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation

R. Dalgleish
Department of Genetics, University of Leicester, Leicester, United Kingdom
Corresponding author: R. Dalgleish

Genet. Mol. Res. 10 (3): 1518-1521 (2011)
Published August 1, 2011
DOI: 10.4238/vol10-3gmr1353


I write to you regarding the paper by Yang et al. (2011) entitled “Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta”, which was recently published in Genetics and Molecular Research.

The impression given by the authors is that they have identified disease-causing DNA sequence variants in COL1A1 and COL1A2, which result in osteogenesis imperfecta (OI) in five of the probands studied. However, the data presented in the paper do not support such a proposition and I will discuss each variant in turn. However, it is important to first clarify the identity of the relevant reference DNA sequences and variant reporting conventions. Read More . . .

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