Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency
Authors' conclusion
In this population, WES revealed itself as a useful frontline tool for the differential diagnosis of individuals presenting with adrenal insufficiency, including discrimination between MLD and adrenoleucodystrophy and giving plausible gene defects for additional comorbidities such as obesity. Such genetic diagnoses are crucial to design optimal treatment plans and for genetic counselling in affected individuals and their families.
Study context
- Population
- Sudanese children with primary adrenal insufficiency (congenital adrenal hyperplasia (CAH)/triple A excluded); additional features incl. white matter changes on MRI, auto-immune features and/or obesity43 families
- Participants
- 48 children
- Outcome
- Genetic aetiology of PAI
Methodological detailsSanger and whole exome sequencing, in vitro splice assays
- Sanger and whole exome sequencing
- In vitro splice assays
Performance
As reported in the abstract
Genetic aetiology consistent with non-autoimmune primary adrenal insufficiency (PAI)
21/43 families
Autoimmune regulator (AIRE) mutations (autoimmune origin)
3 families
ARSA mutations fitting metachromatic leucodystrophy (adrenal insufficiency not previously described)
2 families
No causative gene mutations found
17 families
Further findings
- Putative causal variants for comorbidities concomitantly detected
Original publication
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