174. An 8-year-old girl is brought to the physician because of an 8-year history of stretchy skin. She is at the 50th percentile for height and weight. Physical examination shows smooth skin that is velvety to the touch, extends easily, and snaps back after release. There are multiple thin, stretched scars over the forehead, elbows, knees, and shins. Range-of- motion testing shows hypermobility of the hand and knee joints. Her mother has similar findings. Genetic testing of the patient's lymphocytes shows a 16-nucleotidé deletion in a collagen 5A1 (COL5A1) allele. The mRNA product of COL5A1 in both the nucleus and cytoplasm is assessed in cultured skin fibroblasts. Results show a 50% level of mutated mRNA in the nucleus and 0% level of mutated mRNA in the cytoplasm. Based on these findings, which of the following disease mechanisms is most likely in this patient? A) Alternate splice site created B) Decreased stability of mRNA C) Increased translation D) Increased ubiquitination of abnormal peptide E) Prevention of transcription of the mutated allele
174. An 8-year-old girl is brought to the physician because of an 8-year history of stretchy skin. She is at the 50th percentile for height and weight. Physical examination shows smooth skin that is velvety to the touch, extends easily, and snaps back after release. There are multiple thin, stretched scars over the forehead, elbows, knees, and shins. Range-of- motion testing shows hypermobility of the hand and knee joints. Her mother has similar findings. Genetic testing of the patient's lymphocytes shows a 16-nucleotidé deletion in a collagen 5A1 (COL5A1) allele. The mRNA product of COL5A1 in both the nucleus and cytoplasm is assessed in cultured skin fibroblasts. Results show a 50% level of mutated mRNA in the nucleus and 0% level of mutated mRNA in the cytoplasm. Based on these findings, which of the following disease mechanisms is most likely in this patient? A) Alternate splice site created B) Decreased stability of mRNA C) Increased translation D) Increased ubiquitination of abnormal peptide E) Prevention of transcription of the mutated allele
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Transcribed Image Text:174. An 8-year-old girl is brought to the physician because of an 8-year history of stretchy skin. She is at the 50th percentile for height and weight. Physical examination shows smooth
skin that is velvety to the touch, extends easily, and snaps back after release. There are multiple thin, stretched scars over the forehead, elbows, knees, and shins. Range-of-
motion testing shows hypermobility of the hand and knee joints. Her mother has similar findings. Genetic testing of the patient's lymphocytes shows a 16-nucleotidé deletion in a
collagen 5A1 (COL5A1) allele. The mRNA product of COL5A1 in both the nucleus and cytoplasm is assessed in cultured skin fibroblasts. Results show a 50% level of mutated
mRNA in the nucleus and 0% level of mutated mRNA in the cytoplasm. Based on these findings, which of the following disease mechanisms is most likely in this patient?
A) Alternate splice site created
B) Decreased stability of mRNA
C) Increased translation
D) Increased ubiquitination of abnormal peptide
E) Prevention of transcription of the mutated allele
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