A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy

Area of Science:

• Genetics
• Ophthalmology
• Rare Diseases

Background:

• CWC27-related spliceosomeopathy is a rare autosomal recessive disorder.
• Only 14 cases have been reported globally.
• Characterized by retinal degeneration, short stature, skeletal anomalies, and neurological defects.

Purpose of the Study:

• To describe the clinical features of a Chinese patient with CWC27-related spliceosomeopathy.
• To identify the pathogenic variant in the CWC27 gene.
• To broaden the clinical and mutation spectrum of this rare disease.

Main Methods:

• Detailed ophthalmic examinations and systemic assessments were performed.
• Genomic DNA was isolated and sequenced using next-generation sequencing.
• Sanger sequencing was used for validation and segregation analysis.

Main Results:

• The patient exhibited early-onset vision impairment, nyctalopia, and nystagmus.
• Fundoscopy and optical coherent tomography revealed extensive chorioretinal atrophy and macular degeneration.
• A novel homozygous deletion (c.1133delG) in the CWC27 gene was identified, alongside syndromic features like short stature and craniofacial abnormalities.

Conclusions:

• A novel CWC27 pathogenic variant was identified in a patient with early-onset retinitis pigmentosa and syndromic features.
• This finding expands the known clinical and mutation spectrum of CWC27-related spliceosomeopathy.
• The study aids in the diagnosis of this rare genetic disorder.