Genetic mutation identified as possible cause of Pectus excavatum

Updated: Jun 21, 2020

A new study from researchers in China suggests that a mutation in the gene TINAG (Tubulointerstitial Nephritis Antigen) could be a genetic cause of Pectus excavatum.

Pectus excavatum occurs in 1 out of every 400 births and the exact cause of this condition has not yet been identified. In the past, large genomic studies have identified several gene candidates, including GPR126, CHL1, LBX1, and GAL3ST4.

This study used a different approach. The researchers investigated a four-generation Han Chinese family pedigree in which some members of each generation had Pectus excavatum, whereas other members did not. Genomes from every family member were sequenced. A novel stop-gain variant of the TINAG gene was identified only in the four family members with Pectus. Further laboratory experiments demonstrated that TINAG seems to play an important role in cell survival.

It is likely the case that Pectus can be caused by a number of different mutations or even non-genetic causes. Further studies are needed to confirm the extent to which this genetic mutation truly impacts the development of Pectus.

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