Flashcards in Diseases - Part 1 Deck (10):
Which gene carries the mutation in Myotonic dystrophy?
What are the characteristics of Mytonic Dystrophy?
- Wasting of the muscles
- Heart conduction defects
- Endocrine changes
Achondroplasia is a mutation in what gene?
What does FGFR3, the gene implicated in Achondroplasia, code for?
Transmembrane receptor involved in differentiation of cartilage to bone
Mutations of the FGFR3 gene results in what physical characteristic?
Severe stunting of growth
Mutations in what gene cause Neurofibromatosis (NF1)?
Neurofibromin (NF-1) gene
Neurofibromin gene codes for what?
a Tumor suppressor protein
What are some characteristic features in patients with Neurofibromatosis?
• Café-au-lait spots
• Neurofibromas: swellings on the skin
• Lisch nodules in the iris of the eye
• NF-1 is a classic example of a disease which exhibits variable expressivity
For the dominant negative model of Osteogenesis Imperfecta, where is the mutation?
1 allele of the alpha1 gene