Wednesday, December 18, 2013

Gene .....

From one large family of affedted Tetra Amelis Syndrome [TAS] researcher found mutation in the WNT3 Gene.

WNT3 gene is part of a family of WNT genes which play critical roles in development before birth.

The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development.

Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein which disrupts normal formation of limb and leads to the other serious birth defects associated with Tetra Amelia Syndrome [TAS].

In other affected families, the cause of Tetra Amelia Syndrome [TAS] has not been determined. Researchers believe that unidentified mutations in WNT3 or other genes involved in the development of limb are probably the reason behind this Tetra Amelia Syndrome [TAS].


Then mutation detection frequency is unknown as only a limited number of families have been studied.


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