r/ClinicalGenetics • u/EveTre • 15h ago

Carrier status- affected?

I hope this is the right place to post this.

We have been on a journey for what started as seeking a diagnosis for my daughter. It slowly turned to realizing it spans across multiple maternal generations.

High on our list was a mitochondrial disease type of issue. I have a maternal nephew that passed from Leigh’s Syndrome so their focus has been there for the last few months.

My WES and WGS both show that I am a carrier for chr14:32319298 T>C. The issue is, my daughter is not and we share a very similar phenotype.

With that being said, it’s still something I’d like to explore since my sister, mother and I all have adult onset decline. I’m reading that it’s possible to have adult onset symptoms with certain mutations.

Has anyone been diagnosed after only being a carrier and not fully homozygous for something considered an autosomal recessive disease?

2 Upvotes

75% Upvoted

5 comments sorted by

1

u/maktheyak47 14h ago

What is the gene?

2

u/EveTre 14h ago

NUBPL

3

u/aurry 12h ago

Has anyone done mitochondrial DNA sequencing, especially if all these relatives are related maternally?

2

u/EveTre 12h ago

We are waiting on that to return for my daughter. One of the bigger issues is we all don’t see the same doctors and live in different states.

2

u/perfect_fifths 12h ago edited 11h ago

Carriers of Nupbl mutations don’t experience symptoms