Autosomal Dominant Disorders

by Georgina Cornwall, PhD

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    00:00 Let’s take a quick look at some of the autosomal dominant disorders that you should be accountable for.

    00:10 We will cover them in more detail in future lectures. But familial hypercholesterolemia may be not as prevalent in our society as it is in the Afrikaners society or population. But it certainly is something that is autosomally dominantly inherited. We also see Huntington’s disease. We’ll cover that in more detail in a future lecture. Neurofibromatosis, we may not cover in much detail but you do need to know that’s an autosomal dominant condition. It ends up, there’s fibromatoses or tumors that form on the nerves and interfere with nerve transmission. There are multiple different outcomes and expressions of neurofibromatosis. We also see Marfan syndrome. Marfan syndrome is an issue of connective tissues. These individuals have a pretty difficult time in mobility, maybe even standing up depending on the degree of expression of this disorder. We might see acute intermittent porphyria.

    01:26 Now, I bring this one up because it’s very uncommon and frequently misdiagnosed. If you ever have a patient that’s coming in with intermittent sort of spasming or pains like acute, sharp pains in the abdomen but through any other technique, you can’t find any phenotypic evidence of it and it seems like they might be crazy, it could be acute intermittent porphyria which is pretty serious.

    02:05 So, you want to really treat it. In this day and age, we can do genetic testing to find out whether that’s present.

    02:13 It can be treated and will have less of an impact on that person’s life. Again, we’ve looked at polycystic kidney disease, lots of cysts on the kidneys, again an autosomal dominant disorder.

    02:27 These are certainly disorders that you should keep in mind to make sure that you understand our autosomal dominant disorders and have a basic understanding of what they are without going into too much detail. This is a question that I like to consider. Coming from more of an evolutionary perspective, autosomal dominant alleles, like why do they even persist in the population? You would think that if something is deleterious and autosomally dominant, then why would they maintain themselves in the population? Wouldn’t it get selected against in natural selection? The answer to this question really lays in when the symptoms show up. Earlier, I mentioned that autosomal recessive disorders show up during childhood. Most autosomal dominant conditions show up in adulthood, most, not all, show up in adulthood. Because they’re happening after reproductive years, they are maintained in the population. So before the symptoms show up, people may breed, have offspring, have children and pass on that anomaly to their offspring. So, the alleles get maintained in the population.

    03:49 That’s just a little bit of an evolutionary side note. But in short, I’d like to take a quick summary.

    03:57 We’ve talked about our autosomal recessive disorders as well as autosomal dominant disorders.

    04:03 I’ve given you some incidences of how they appear in pedigrees as well as some important disorders that you should keep in mind for your exams. I look forward to moving on with you in the next lecture.

    About the Lecture

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

    Included Quiz Questions

    1. Cystic fibrosis
    2. Huntington's Disease
    3. Neurofibromatosis-1
    4. Marfan Syndrome
    5. Adult polycystic Kidney Disease
    1. Huntington's Disease
    2. Neurofibromatosis-1
    3. Acute Intermittent Porphyria
    4. Familial hypercholesterolemia
    5. Polycystic kidney Disease
    1. Take a thorough family history in search of similar illness and genetic analysis
    2. Post for diagnostic laparoscopy
    3. Discharge the patient as he is malingering
    4. Repeat all first line investigations like USG and CT scan of the abdomen
    5. Start empirical therapy in suspicion of peritonitis
    1. Neurofibromatosis-1
    2. Hemophilia A
    3. Cystic fibrosis
    4. Tay Sachs Disease
    5. Glucose-6-phosphate deficiency
    1. Connective tissue
    2. Muscular tissue
    3. Neural tissue
    4. Epithelial tissue
    5. Germ cell tissue
    1. Neurofibromatosis-1
    2. Huntington's Disease
    3. Marfan Syndrome
    4. Acute Intermittent Porphyria
    5. Polycystic Kidney Disease
    1. Autosomal Dominant Polycystic Kidney Disease
    2. Autosomal Recessive Polycystic Kidney Disease
    3. Hydronephrosis
    4. Simple cyst of kidney
    5. Medullary cystic disease of kidney

    Author of lecture Autosomal Dominant Disorders

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD

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