Case Workbook for Human Genetics 9th Edition by Ricki Lewis

Exercise 12

An infant developed extremely low blood sugar and became comatose when hungry. As she grew older, she would only become hypoglycemic when suffering from a viral infection. She was diagnosed with a deficiency of carnitine-acylcarnitine, a protein that shuttles fatty acids across the inner mitochondrial membrane. Sequencing her gene for this enzyme showed a single addition of a cytosine (C), and 23 extra codons, but no repeats. Describe two types of mutations that can extend a gene in this manner.