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Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
Gönül Büyükyılmaz1, Keziban Toksoy Adıgüzel1, Özlem Yüksel Aksoy2
1Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara.
The Turkish Journal of Pediatrics
|January 11, 2024
Summary
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is caused by SGPL1 gene mutations. A novel mutation presented with hypocalcemia, adrenal insufficiency, and neurological issues, expanding the syndrome
Area of Science:
- Genetics and Molecular Biology
- Pediatric Endocrinology
- Rare Diseases
Background:
- Sphingosine phosphate lyase insufficiency syndrome (SPLIS) arises from inactivating mutations in the SGPL1 gene.
- SPLIS is associated with congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and neurological deficits.
Observation:
- A Turkish infant presented with bruising, hypocalcemia, primary adrenal insufficiency (PAI), and subclinical hypothyroidism.
- Further manifestations included ptosis, persistent lymphopenia, nephrotic syndrome, and distinctive neuroimaging findings like optic nerve thinning.
Findings:
- Whole exome sequencing identified a novel homozygous c.1432C > G (p.Gln478Glu) variant in the SGPL1 gene.
- This case highlights a new mutation expanding the clinical spectrum of SGPL1-related disorders.
Implications:
- SPLIS diagnosis should extend beyond nephrotic syndrome to include patients with PAI, neurological disorders, hypocalcemia, and abnormal neuroimaging.
- Continued identification of novel SGPL1 mutations is crucial for understanding and diagnosing SPLIS.
- This case underscores the importance of comprehensive genetic analysis in complex pediatric cases.
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