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X-linked Dominant Disorders

by Georgina Cornwall, PhD
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    Some X-linked dominant disorders, for the sake of calling them X-linked dominant disorders, classically you will need to know for sure Fragile-X syndrome. Now, I’m not going to go into detail on Fragile-X syndrome in this lecture because it’s a triplet expanding repeat. I’m going to cover that in the next lecture. X-linked dominant though, Fragile-X, definitely you need to know that one. Hypophosphatemic rickets is another one that you should know along with Rett syndrome. Again, Rett syndrome is only showing up in females. Another key that you really should be aware of with Rett syndrome is it looks like some other disorders. It looks quite a lot like Angelman syndrome so it can often be misdiagnosed as Angelman syndrome. It used to be considered one of the autism spectrum disorders. Since the allele was located for these specific characteristics that show up in Rett syndrome including the scoliosis and such neurodegeneration, it has been removed from autism spectrum. But there’s certainly a degree of mental retardation that goes on in there and some classic movements like hands going to the mouth and wringing of the hands that let it stand out from those other disorders. These are three that you should certainly keep in mind when we’re considering X-linked dominant disorders. We’ve covered a lot of different inheritance patterns. Sometimes figuring them all out can be a little bit difficult especially with the complexities of penetrance and expressivity and lethality and manifesting heterozygotes and all of those things. Speaking of which, why don’t you just take a moment and write down all the exceptions to normal inheritance patterns that you can recall. Now, coming back to the normal inheritance patterns, here we’ll take a look at a flow chart. I put this together because I think it’s quite...

    About the Lecture

    The lecture X-linked Dominant Disorders by Georgina Cornwall, PhD is from the course Single-Gene Disorders.


    Author of lecture X-linked Dominant Disorders

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD


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