A gene that is involved in the sex determination of fetuses can also cause serious genital malformations in babies. Scientists have discovered malformations can occur in babies born with more than two copies of the WNT-4 signalling gene. Most people have two copies of the gene which is found on chromosome one.
The malformations that can result from the gene anomaly include undescended testes or an enlarged clitoris. Such malformations are thought to occur in about one per cent of all births. In some extreme cases, babies can be born with sexually ambiguous genitalia.
Dr Eric Vilain of the University of California reported that the team of scientists discovered that an extra copy of the gene 'can change the fate of an embryo from male to female. When the amount of gene fluctuates even slightly at any stage in the genetic blueprint, it changes the embryo.'
It is thought that the discovery will lead to improved diagnostics for fetuses with ambiguous or malformed genitals. Vilain said that the findings 'can quickly translate into a rapid molecular diagnostic test for abnormalities in the number of copies of WNT-4'. He added that doctors may be able to perform a test for the extra genes relatively early in pregnancy by using amniocentesis. 'Our findings suggest that clinicians could identify WNT-4 duplication prenatally. If this proves true, in the future we may be able to correct the defect in the womb and restore the embryo to its original male status.'
Sources and References
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Scientists probe gender genetics
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Sex gene plays role in genital malformations
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