Rare genetic diseases can arise from unsuspecting carriers

When two people with a rare form of deafness mate, the genetic combination can yield an unusual syndrome in which the child has fragile bones, deafness, blindness and albinism.

The disorder is an example of a rare disease passed on by parents who do not exhibit the condition. It occurs through genetic combination and mathematical permutation (as autosomal recessive inheritance).

In order to mitigate future occurrences of this particular spectrum of rare diseases, the researchers advise genetic testing in particular cases with couples where Waardenburg syndrome type 2A (WS2A) or Tietz syndrome may be present (and/or if both parents have partial albinism and hearing loss, which could be an indicator), as well as genetic counseling about the risks to offspring if it is indeed a potential factor.

Read more on https://geneticliteracyproject.org/2017/07/18/genetic-pairing-rare-deafness-can-give-birth-even-rarer-commad-syndrome/

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