genomics & society

Elizabeth Taylor Was A Mutant

Posted by Myra I. Roche on April 16, 2012

Thanks to the world of sci fi movies, the word “mutant” has become nearly synonymous with highly visible, grotesque, morphological changes such as those seen in menacing alien creatures roaming the barren landscape.  In an unfortunate, guilt-by-association relationship, the related word mutation shares a similar sinister connotation.  Since colloquial meanings consistently trump wikipedia definitions, many genetic professionals studiously avoid using the “m” word during a genetic counseling session for fear they will trigger a negative visceral reaction.  Why elicit such a deer-in-the-headlight response from parents that will only damage our ability to establish and maintain rapport?  In response, softer and gentler synonyms have evolved in the genetic counseling language including: a genetic change, a genetic variant, and a genetic difference.  While none of these substitutes are completely satisfactory, their saving grace is they don’t pack the emotional punch of the word mutation.  But then, maybe parents don’t understand precisely what these synonyms mean. Which, perhaps, is exactly the point.

Interestingly, the pure, scientific definition of the word mutation is neutral, not pejorative.  A mutation simply means a permanent heritable change in the genome.  Note the lack of judgment.  The word itself provides no hint whatsoever whether the change results in a negative OR a positive effect.  This neutrality is indeed one of its strengths.  We just always seem to concentrate on the negative while forgetting about the possibility of the positive.

But now  the word mutation has a final chance to redeem itself by being paired with someone who many would consider an anti-mutant, Elizabeth Taylor.  According to this recent story on Slate, after “Liz” was born, her parents were told she had a “mutation”.  Their response was predictable:  “Well, that sounded just awful,” (Elizabeth’s) mother later recalls, “a mutation.”  We can even hear the imaginary exclamation pointSo which grotesque feature did Liz show that led to this startling conclusion?  Nope, wrong mutation; not the violet eyes.  According to the article, which can be found here, Liz’s mom recalled her relief when “it was explained that her eyes had double rows of eyelashes.  I thought, well, now, that doesn’t sound so terrible at all.”  Thanks, mom.

The best guess as to the genetic source of this dysmorphism is the gene FOXC2, a homeobox gene that directs the development of embryonic tissues including the lymphatic system.  It is also associated with a syndrome (another word on the “don’t ask, don’t tell” list) called lymphedema-distichiasis syndrome .  The double row of eyelashes are often benign but can grow inward, damaging the cornea.  Alternatively, paired with a mutation causing violet eyes, and occurring in an organism nurtured in a “pushy-mother” environment, they may catapult you into becoming a movie star.  The syndrome is also associated with congenital heart disease and, according to the story, Taylor had surgery to repair a leaky valve and eventually died of congestive heart failure. All of this circumstantial evidence could now be resolved by $390.00 worth of genetic testing.  Oh and by the way, the double row of eyelashes is a dominant trait meaning that not only was Elizabeth Taylor a mutant, hers was a new mutation.  But then, what movie star doesn’t like to think of herself as one of a kind?

The process of communicating genetic information, perhaps especially to parents,  is studded with land-mines.  Some of these can be side-stepped by establishing the common language we both agree to use during a clinical encounter. Talking the same talk is crucial in being able to develop rapport and gain trust; a prerequisite to effective communication. Language evolves.  Words take on new meanings and lose old ones and scientific language is not immune.  The word mutation conjures up a precise meaning to a geneticist but one could argue it has been irrevocably damaged over time leaving it to roam the genetic counseling language, packing the same emotional punch it has had on unsuspecting parents for the last eighty years.  Maybe it is finally time to take it down.


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