Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome
Rekha A1, Shanu Chandran2, Arpita Roy Ghatak2
1Department of Clinical Genetics, Christian Medical College, 632002, Vellore, Tamil Nadu, India.
Indian Journal of Pediatrics
|August 19, 2022
Summary
Crisponi syndrome (CS) is a rare genetic disorder. This study identifies novel variants in the CRLF1 gene causing CS in South Indian neonates, emphasizing early recognition for genetic counseling.
Area of Science:
- Genetics
- Rare diseases
- Neonatal care
Background:
- Crisponi syndrome (CS) is a rare autosomal recessive disorder.
- Characterized by facial muscle contractions, feeding difficulties, and dysmorphism.
Observation:
- Two South Indian neonates diagnosed with CS.
- Novel pathogenic variants in the cytokine receptor-like factor 1 (CRLF1) gene identified.
- Clinical features included feeding difficulty, dysmorphism, tachypnea, contractures, and muscle spasms.
Findings:
- Variants in the CRLF1 gene's signal peptide domain correlated with earlier onset of spasms.
- No common variants were found across Indian CS cases.
- CS presentation can mimic tetanus, highlighting the need for genetic suspicion.
Implications:
- Early diagnosis of CS is crucial for differentiating from infectious conditions like tetanus.
- Genetic counseling is vital for affected families.
- Understanding genotype-phenotype correlations aids in predicting disease onset and severity.
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