MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study
Clinical presentation
A 4-year-old male presented with a suspected clinical diagnosis of Joubert syndrome. In addition to MRI results showing molar tooth sign and a history of neurodevelopmental (motor and speech) delay and autism, his symptoms included:
- Self injurious behavior
- Muscle hypotonia
- Dysphagia
- Hearing loss
- Constipation
- Course appearing face
Previous genetic testing
Multiple tests were performed with negative results including:
- Chromosomal microarray
- Whole exome sequencing (x2)
- Mitochondrial genome sequencing
- Whole genome sequencing, reanalysis
Genomic Unity® Testing
was ordered because of its ability to identify all major variant types in a single test.
Genomic Unity® Testing
Variantyx Genomic Unity® testing identified a homozygous, pathogenic SNV in HYLS1 shared with his symptomatic brother. The p.Arg6Ter change results in early termination of the 299 amino acid protein.
This case provides additional evidence that stop gain changes result in a milder, non-perinatal lethal phenotype compared to the typical p.Asp211Gly change.
Diagnosis: Joubert syndrome
Uniform data from WGS clearly shows the inherited SNV.
The Variantyx Difference
Why was this SNV detected by Genomic Unity® testing, and not detected by other tests?
-
CMA tests are unable to detect SNVs.
Variantyx genome analysis has a detection range from 1bp to whole chromosomal events, easily detecting this SNV. -
Exome and genome tests should have detected this variant. The region looks to be well covered by commercial exome probe kits and is not notable for repetitive sequences likely to interfere with amplification.
Variantyx variant scientists have interpretation capabilities that enable thorough investigation of every variant, oftentimes uncovering atypical presentations.
Variantyx tests that would have identified this variant
Want similar results for your patients?
Connect with a Clinical Specialist to find out how easy it is to bring the power of whole genome sequencing into your practice.