Early Diagnosis of Lesch–Nyhan Syndrome Using Whole Exome Sequencing
Author Information
Author(s): Fang Hung-Hsiang, Lee Chung-Lin, Chen Hui-Ju, Chuang Chih-Kuang, Chiu Huei-Ching, Chang Ya-Hui, Tu Yuan-Rong, Lo Yun-Ting, Lin Hsiang-Yu, Lin Shuan-Pei
Primary Institution: MacKay Memorial Hospital
Hypothesis
Can whole exome sequencing facilitate early diagnosis of Lesch–Nyhan syndrome in infants?
Conclusion
Early clinical features such as hyperuricemia, hypotonia, and motor delay may suggest Lesch–Nyhan syndrome in infancy, and whole exome sequencing can enable timely diagnosis.
Supporting Evidence
- All three patients had hyperuricemia, hypotonia, spasticity, and motor developmental delay.
- Pathogenic variants in the HPRT1 gene were identified in two patients.
- Two patients had orange-colored crystalline deposits in their diapers, indicative of hyperuricosuria.
- Self-injurious behavior had not yet developed in two patients due to their young age.
Takeaway
This study shows that doctors can find out if a baby has a rare disease called Lesch–Nyhan syndrome early on by using special tests on their genes.
Methodology
The study used whole exome sequencing and biochemical testing to confirm diagnoses in three patients.
Limitations
The study is limited to three cases from a single medical center, which may not represent the broader population.
Participant Demographics
Three male patients diagnosed with Lesch–Nyhan syndrome at a single medical center in Taiwan.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website