Mucolipidosis Type 4 Gene that causes mutation: MCOLN1

3.)protein deleted by the gene from #2: exons 1-5, perhaps exon 6 also

4.)Discovered in the USA first in 1989

5.)The range of occurrence rates in the world is 1 in every 40,000 for this disease Exact numbers for strictly the United states have not been determined.

6.)Approximately 70% of patients with MLIV are of Ashkenazi Jewish decent.

7.)Symptoms of MLIV often have delayed development and vision impairment that worsens over time. They also suffer from delayed development of mental and motor skills. Also, muscle stiffness or lack of muscle development. Vision may be normal at birth but over time with this disease vision is impaired. Also, patients may suffer from lack of stomach acid production.

8.)MLIV is diagnosed through thorough examination by a doctor and often results in study through an elevated plasma gastrin concentration or polymorphic lysosomal inclusions in skin, found through biopsy.

9.)Treatments may include, orthotics, antiepileptic drugs, lubricating eye drops, in extreme cases surgical correction of strabismus may be necessary.

10.) Prognosis includes, shortened life span, reduced quality of life, and also additional complications with health

11.)Type of Genetic Inheritance Pattern: MLIV is an autosomal recessive pattern

12.) Current research is being conducted to treat the actual disease. As of now only the symptoms of the disease can be treated.

citations: "Mucolipidosis type IV - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 06 Feb. 2017.

Schiffmann, Raphael. "Mucolipidosis IV." GeneReviews® [Internet]. U.S. National Library of Medicine, 30 July 2015. Web. 06 Feb. 2017.

Database, GeneCards Human Gene. "MCOLN1 Gene(Protein Coding)." MCOLN1 Gene - GeneCards | MCLN1 Protein | MCLN1 Antibody. N.p., n.d. Web. 06 Feb. 2017.

citation for photos:

photo 1 "Patient with mucolipidosis type 2 at the age of 9 month | Open-i." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 06 Feb. 2017.

Photo 2: "Mucolipidoses." Geneticdisease2 - Mucolipidoses. N.p., n.d. Web. 06 Feb. 2017.

Photo 3: "Oral findings in patients with mucolipidosis type III." Oral findings in patients with mucolipidosis type III. N.p., n.d. Web. 06 Feb. 2017.

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