Type XXVII collagen – human genetics finally meets mouse genetics

COL27A1

In 2011 Ray Boot-Handford and colleagues published a study looking at the role of type XXVII collagen in the growth plate. The full text of the manuscript is here.

At the time there were no known COL27A1 mutations that caused human disease; however, last month Jacqueline Hecht and her group from Houston published the first human COL27A1 mutation in Steel syndrome in the Puerto Rican population.steel

Whole-exome sequencing identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. The identified variant appears to have arisen as a founder mutation in the Puerto Rican population.

 

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