Recessive genetic condition?

Hi, Our son Josh was diagnosed with PCD soon after birth. He is now eight years old. He has received excellent multidisciplinary care countrywide.

Last year Josh had bloods taken for genetic testing and the results indicated that only one of us (his parents) has a faulty gene, as the condition is thought to be recessive genetic there is great interest in this result and both Mark & I have now provided samples for testing to see which of us does/does not have the mutation. Exiting times, we will keep you posted!

5 Replies

oldestnewest
  • Hi ... yes this is very unusual! Please do keep us posted.

  • Yes please keep us posted an this is exiting news about the genetics of PCD

  • If Josh's test was done correctly, this could turn out to be very significant. I also had my blood taken for genetic testing, and am waiting for the results.

  • Will be very interesting to see the result of our bloods, not sure how long the process will take, our samples were take beginning of January 17.

  • That is interesting. PCD is a very heterogenous condition (not caused by just one gene), so as we all know it is diagnostically very difficult, and there is still very much to be learned about inheritance patterns. While the genes identified this far, seem to require both copies to be affected, there is an interesting research article that encountered heterozygous subjects in an Amish population that was studied. Their diagnosis was unequivocal, yet the second mutant alleles could not be found.

    When our daughter had genetic testing for primary immune deficiency as being the cause of her issues, they found mutant alleles, but not on both copies. As the condition these genes related to, are considered homozygous and require both copies, although clinically suspicious, they could not conclude that this was it. But they did say this could well change with further research, which is of course incredibly frustrating.

    Our pcd consultant believes that our daughter's infections cannot all be due to PCD, and there may still be immune related issues at play, so the diagnostic complexities are huge!

    We too have had bloods taken, now just wait & see. Please keep us posted on the outcome, and thanks for sharing.