Discussions By Condition: Rare Disases

achondroplasia gene

Posted In: Rare Disases 1 Replies
  • Posted By: Anonymous
  • September 9, 2006
  • 05:16 PM


I was curious if anyone could answer a question for me about the achondroplasia gene. I heard that it is autosomal dominent, which explains hows two parents with achondroplasia can have a nonachondroplasia child, and also explains hows double dominent disorder occurs. Yet I have read two nonachondroplasia parents can have a child with achondroplasia, and that this is even the majority of cases. If the achondroplasia gene is dominent, how can two indivudals that are both recessive with the nonachondroplasia gene have a child with the dominent gene?


P.S. You can respond to this post or if you like e-mail me at zyzzuz@yahoo.com

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1 Replies:

  • Yours is a question of penetrence or a de novo mutation. Please check out the following websites for a more indepth answer:www.genetests.orgwww.orpha.netwww.nlm.nih.gov/entrez/query.fcgi?db=OMIM
    Anonymous 42,789 Replies
    • October 23, 2006
    • 02:52 PM
    • 0
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