SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait
To our knowledge, this is the first description of an asymptomatic individual homozygous for a pathogenic <i>SCYL1</i> variant. Our findings highlight striking intrafamilial variability in <i>SCYL1</i>-deficiency and emphasize the reversibility of glycosylation abnormalities and liver dysfunction upon clinical recovery.
Authors
- Wafa’a Al-Qabandi
- Reem M. Elshafie
- Buthaina Albash
- Hind Alsharhan (ORCID: https://orcid.org/0000-0002-6433-0311)
- Miao He (ORCID: https://orcid.org/0000-0002-1887-1512)
- Laila Kazem
Institutions
- Children's Hospital of Philadelphia (US)
- Farwaniya Hospital (KW)
- Amiri Hospital (KW)
- Kuwait University (KW)
- Ministry of Health (KW)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-10-15
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101269
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00