CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency
2011

Mutation in CYP17A1 Causes Hormone Deficiency

Sample size: 1 publication Evidence: moderate

Author Information

Author(s): Hwang Daw-Yang, Hung Chi-Chih, Riepe Felix G., Auchus Richard J., Kulle Alexandra E., Holterhus Paul-Martin, Chao Mei-Chyn, Kuo Mei-Chuan, Hwang Shang-Jyh, Chen Hung-Chun

Primary Institution: Kaohsiung Medical University Hospital, Taiwan

Hypothesis

The study investigates the effects of a specific intron mutation in the CYP17A1 gene on hormone synthesis and splicing.

Conclusion

The CYP17A1 intron mutation leads to significant splicing errors, resulting in severe hormone deficiencies.

Supporting Evidence

  • The patient exhibited clinical features of 17α-hydroxylase deficiency.
  • Genetic analysis revealed compound heterozygous mutations in the CYP17A1 gene.
  • Over 90% of mRNA transcripts from the mutant gene were incorrectly spliced.

Takeaway

A girl had a mutation in a gene that helps make hormones, which caused her to have health problems like high blood pressure and not developing normally.

Methodology

The study involved genetic sequencing, PCR amplification, and analysis of mRNA splicing in transfected cells.

Limitations

The study's findings may not fully represent in vivo conditions due to the use of cell lines for splicing analysis.

Participant Demographics

The participant was an 18-year-old Chinese female with non-consanguineous parents.

Digital Object Identifier (DOI)

10.1371/journal.pone.0025492

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication