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Genetic Mutation News: Researchers Have Identified Cause Of Cleft Lip & Palate, Heart Defects

Update Date: Jan 14, 2017 09:10 AM EST

The genetic mutation that is responsible for cleft lip and palate (CLP), which are among the most common birth defects has been identified and the underlying cause of these defects can now be understood. 

Researchers from University of Exeter, United Kingdom and University of Manitoba, Canada reported that they have located the novel gene mutation that slows the turnover of hyaluronan, an important component of the hard palate. Families from Amish and Northern Saudi Arabian were included in the study titled "Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice."

Syndromic cleft lip and palate is usually accompanied by other birth defects like hearing and sight problems and some have extra toes or fingers. The genetic mutation also causes an anomaly where the heart develops a third atrial chamber on the left side, which is also seen in babies born with CLP.

Andrew Crosby of University of Exeter said that finding the cause of orofacial clefting is important because it may be relevant to other genetic causes of the condition. The team was able to map the condition to mutilations in the HYAL2 gene. It is responsible in encoding an enzyme that breaks down hyaluronan - a carbohydrate polymer found in large quantity in connective tissues and hard palate.

Emma Baple, one of the researchers from University of Exeter, also gives importance to their findings about genetic mutation. The study also provides the first molecular cause of the heart defect called cor triatriatum sinister.

Hymecromone, a drug that blocks hyaluronan synthesis, is approved in many countries. Researchers are hopeful that their findings can contribute to development of new treatment to address genetic mutation.

According to Centers for Disease Control and Prevention, the prevalence of babies born with genetic mutation is high, affecting 2,650 with cleft palate and 4,440 with cleft lip.

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