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qid 6221 · health
Question: Mutations that cause achondroplasia exert an effect which can be classified as:
- recessive negative.
- haplosufficiency.
- neutral mutation.
- loss-of-function.
- recessive positive.
- gain-of-function.
- dominant negative.
- gain-of-regulation.
- haploinsufficiency.
Our answer: F. gain-of-function. Source quote machine-checked (exact quote)
How it was answered
Multi-step solver (maze), replayed by code
Current source
GeneReviews (NCBI Bookshelf NBK1152), Achondroplasia
https://www.ncbi.nlm.nih.gov/books/NBK1152/
“Note: Since achondroplasia occurs through a gain-of-function mechanism and large intragenic deletions or duplications have not been reported, testing for intragenic deletions or duplications is unlikely to identify a disease-causing variant.”
Source quote machine-checked (exact quote)
Earlier version (superseded)
https://www.ncbi.nlm.nih.gov/books/NBK1152/
Source weak (http_get_200_text_and_question_terms)
Earlier version (superseded)
No public source has been found for this card yet (3 places checked internally).
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