Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia
Authors' conclusion
We provided genetic evidence linking deletions encompassing ZNRF3 exon 2 and congenital adrenal hypoplasia, which might be related to constitutive inactivation of Wnt/β-catenin signaling by ΔEx2-ZNRF3.
Study context
- Population
- Patients with childhood-onset primary adrenal insufficiency of biochemically and genetically unknown etiology
- Participants
- 9 patients
- Outcome
- Single-exon deletions encompassing ZNRF3 exon 2
Methodological detailsarray comparative genomic hybridization, 3D structure modeling, in vitro functional studies
- Array comparative genomic hybridization
- 3D structure modeling
- In vitro functional studies
Main finding
As reported in the abstract
- Patients with various-sized single-exon deletions encompassing ZNRF3 exon 2, with neonatal-onset adrenal hypoplasia and glucocorticoid and mineralocorticoid deficiencies
- 3
Original publication
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia. J Clin Endocrinol Metab. Published 25 October 2023. doi:10.
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