Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes
Authors' conclusion
Overall, these results provide an unprecedented insight into the diverse genetic etiology of hypopituitarism.
Study context
- Population
- Unrelated cases of congenital hypopituitarism (CH) from Argentina
- Participants
- 137 unrelated cases
- Outcome
- Genetic etiology of CH (diagnostic yield of whole exome sequencing)
Methodological detailswhole exome sequencing
- Whole exome sequencing
Main finding
As reported in the abstract
Diagnostic yield
Pathogenic or likely pathogenic variants in known genes
19.1%
Pathogenic or likely pathogenic variants in new genes
16%
Variants of uncertain significance
28.2%
Observational data: associations, not effects.
Further findings
- Novel candidate genes associated with CH (eg, PTPN6, ARID5B)
- 13
- Most prevalent affected gene encodes cell adhesion factor ROBO1; spectrum of phenotypes beyond pituitary stalk interruption syndrome
- CHD7 mutations produce a phenotypic spectrum, not always with full CHARGE syndrome
- New evidence of pathogenicity in PIBF1 and TBC1D32
Original publication
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes. J Clin Endocrinol Metab. Published 8 May 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →