In a collaborative effort researchers from the Boston University of Medicine have discovered the gene for BOFS. The disorder is caused by a deletion within the TFAP2A gene (Activating Enhancer-Binding Protein).
Branchio-Oculo-Facial Syndrome also known as BOFS is a rare facial genetic disorder that is inherited as an autosomal dominant trait. This genetic disorder is congenital and over the past 4 years since 2004 only 50 cases have been medically recorded. The symptoms of people who have BOFS include: low birth weight, retarded growth and mental retardation. Patients with BOFS are characterised by facial abnormalities including the presence of a pseudocleft of the upper lip, a malformed nose, blockage of tear ducts, malformed ears, lumps on the neck and collar bone and skin lesions behind the ears.
It was discovered using modern molecular microray technologies. The university examined an affected mother and son and found that they both had deletions present in their chromosome 6. After their genes were structured according to the patient’s location it was found that there were missense mutations clustered in the region of DNA-binding domain on the TFAP2A gene.
This discovery will lead to more accurate testing and even prenatal diagnosis. It may also be able to play a role in identifying genes and disorders with more common forms of the occurrence of a cleft lip and palate.
To find out more visit:
http://www.healthjockey.com/2008/04/30/gene-for-branchio-oculo-facial-syndrome-discovered-by-researchers/
http://www.bchealthguide.org/kbase/nord/nord714.htm
By Odette Pletzer 41776960
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