Findings so far from CARE study into genetic factors contributing to OA/TOF

Researchers from the CARE for Kids EA/TEF* Study being conducted by Columbia University have had their genetic sequencing results (from 45 families who enrolled in the pilot study) published in the European Journal for Human Genetics in 2020.

The main findings are highlighted below:

  • They identified potentially disease-causing variants in 15 different genes among 11 individuals – 10 of which had other birth defects apart from EA/TEF (non-isolated). This indicates that individuals who have EA/TEF in addition to other birth defects are more likely to have a contributing genetic variant.
  • 14 candidate genes that they identified were novel and have not been associated with EA/TEF before.
  • Based on their sample, they estimated that 33% of EA/TEF cases may have genetic factors contributing to its occurrence.
  • No two families were found to have variants in the same gene. This indicates that there are multiple single genes that contribute to EA/TEF and larger studies are likely to identify new genes.

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*OA/TOF in the UK

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