Phenotypes Linked to Duplication Upstream of SOX9 : New Insights Into Presentation and Diagnosis
Authors' conclusion
46,XX individuals with SOX9 upstream duplications may exhibit no symptoms, but thorough family screening is crucial due to the potential inheritance and testicular/ovotesticular DSD risk in subsequent generations. We emphasize the effectiveness of high-resolution microarray analysis (>500K) as the primary diagnostic tool for 46,XX/SRY-negative testicular/ovotesticular DSD individuals, enabling thorough genome-wide assessment of copy number variations and detecting small alterations.
Study context
- Population
- 46,XX/SRY-negative individuals with heterozygous duplications upstream of SOX9 (107 to 941 kb); ages at diagnosis 0.1 to 55 years
- Participants
- 12 participants
- Outcome
- Phenotype of 46,XX individuals with SOX9 upstream duplications
Methodological detailsGenetic work-up: karyotyping, fluorescence in situ hybridization (FISH) for SRY, microarray, MLPA and next-generation sequencing panels including whole genome sequencing
- Genetic work-up: karyotyping, FISH for SRY, microarray, MLPA and next-generation sequencing panels including whole genome sequencing
Main finding
As reported in the abstract
Testicular/ovotesticular differences/disorders of sex development (DSD)
7
58%
Asymptomatic carriers detected through family screening
5
41%
Observational data: associations, not effects.
Further findings
Inheritance of the duplication
- Inherited from the father
- n = 3
- Inherited from an asymptomatic mother
- n = 2
Diagnostic yield of microarray
- In one family, duplication missed by 300K microarray was detected by MLPA and confirmed with 750K microarray
Original publication
Composed by AI from the published abstract and checked against it. How Briefs are made →