Gene Found That Causes Opitz C Syndrome

Posted: Mar 15 2017, 8:56am CDT | by , Updated: Mar 15 2017, 8:58am CDT, in News | Latest Science News

 

Gene Found That Causes Opitz C Syndrome
  • Researchers discover Gene Responsible for Opitz C Syndrome
 

The researchers have discovered a gene that is responsible for rare disorder Opitz C syndrome.

Opitz C syndrome is a rare genetic disease that causes several disabilities among its sufferers. It has been found to occur in three people in Iberia. Also 60 people on the face of the globe have it. A team of experts have isolated the gene responsible for Opitz C syndrome.

This took place in a patient in Catalonia. Since the condition is incurable right now, the scientists are looking into ways to ameliorate its symptoms on a genetic level.  

The disease was described for ths first time in 1969. It has been thought to occur due to dominant maternally silenced novo mutations. Among some of the nasty symptoms are: trigonocephaly, learning disorders, psychomotor problems and a host of other issues.

Prader-Willi syndrome also occurs in many patients of this debilitating disease. A novo mutation termed p. Q638* which is located in the gene called MAGEL2 was found in a patient in Catalonia.

This mutation has something in common with other mutations in Prader-Willi syndrome and also in Schaaf-Yang syndrome. The latter afflicts 50 people on a global level. 

The thing is to find new ways of making the quality of life of these patients better. The molecular defects which cause these diseases in the first place have to be diagnosed with precision and then countered. It is here that genetics may just come to the rescue.

Opitz C syndrome is a minority disease like several others. There is yet hope for a future cure for this terrible malady. All it will take is further research into the genetic bases of this disease. For that the lab researchers and scientists will have to put two and two together and brainstorm on a hypothetical and experimental basis.  

This new study got published in the journal Scientific Reports.

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<a href="/latest_stories/all/all/20" rel="author">Sumayah Aamir</a>
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