Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency
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.
Authors
- Saptarshi Maitra
- Salwa Musa (ORCID: https://orcid.org/0000-0002-0868-0915)
- Samar S. Hassan (ORCID: https://orcid.org/0000-0002-9741-3383)
- Younus Qamar (ORCID: https://orcid.org/0000-0002-4325-2078)
- Louise Metherell (ORCID: https://orcid.org/0000-0002-0530-3524)
- Omer Babiker (ORCID: https://orcid.org/0000-0002-8782-3813)
- Claire E. Hutchison (ORCID: https://orcid.org/0000-0003-0118-0018)
- Jordan S. Read (ORCID: https://orcid.org/0000-0002-3888-6631)
- Li F. Chan (ORCID: https://orcid.org/0000-0001-5146-8242)
- Avinaash Maharaj (ORCID: https://orcid.org/0000-0001-8051-3866)
- Areej A. Ibrahim (ORCID: https://orcid.org/0009-0006-0724-5950)
- Luqman Fauzi (ORCID: https://orcid.org/0000-0001-6609-5637)
- Mohamed Ahmed Abdullah (ORCID: https://orcid.org/0000-0001-7121-8216)
- Charlotte Louise Hall (ORCID: https://orcid.org/0000-0002-1890-8821)
- Leonardo Juan Ramírez López (ORCID: https://orcid.org/0000-0002-6473-5685)
- Amna I. Ahmed
- Ghassan Mohamadsalih
- Chris Smith (ORCID: https://orcid.org/0000-0003-1808-6570)
- Marwa Mohammedali
Institutions
- Qatar Airways (Qatar) (QA)
- University of Khartoum (SD)
- Queen Mary University of London (GB)
- Al-Neelain University (SD)
- Omdurman Islamic University (SD)
- Sudan Childhood Diabetes Association (SD)
- Sidra Medical and Research Center (QA)
- William Harvey Research Institute (GB)
- Ibn Sina Hospital (KW)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1093/ejendo/lvaf037
- Citations
- 2
- Primary Topic
- Adrenal Hormones and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.59
Funders
- Biotechnology and Biological Sciences Research Council