Harlequin Ichthyosis Research Paper

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Harlequin Ichthyosis (HI) is an uncommon genetic disorder due to high quantity of mutations on gene ABCA12. HI infected newborns will have dry and tough outer skin coverings that crack into different plates and create deep fissures that lead to major pain on the skin and are highly prone to infections (Akiyama). Usually, couples who are carriers for HI disease are healthy and do not show signs of HI. However, both carriers of this autosomal recessive disorder will have about 25% chance of conceiving children with HI.
GENETICS:
Carriers of an autosomal recessive diseases are generally healthy because one of the allele that code for normal proteins is still present, which covers the loss of the mutated allele. Hence, carriers for HI will
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The correlations between phenotype and genotype have not yet proven, but most mutations of the ABCA12 genes are though to be core that leads to HI disease. Mutations of the ABCA12 genes are thought to lead to major loss of this protein functions because it effect the folding of the beta and alpha sheets in order to become functional proteins that is essential for lipids transport across the cell membrane to the epidermis layer of the skin. One other disease that is also associated with mutations of ABCA12 gene is lamellar ichthyosis (LI). This disease is the less severe version of HI, due to lower incidents of mutation in the affected genes. The mutated ABCA12 in LI can still make functional proteins that somewhat help with lipids binding across the outer skin layer. According to Hautier, the most recent study demonstrates that ABCA12 protein can function as a lipid transporter to the epidermal layer of the skin. Mutations of this protein will result in decrease of functions of this lipid transporter, which lead to…show more content…
Survivors that have HI diseases will have thick plate of dry skin or over their body, and thick plates of dry skin. Physical development may be delayed by the enormous calorie needs their skin function demands, but they’re mental and intellectual developments are expected to be normal (Aama). HI individuals who are born will have less than 50% chance of surviving. Survivors will have a normal life expectancy but may develop severe skin disease with eye complications related to dry skins that forcefully cause the eyelid to turn outward away from the eyeballs, delayed developmental milestones, motor and social

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