Recurrent CPLANE1 splice site variant in Oro-facial-digital syndrome OFD VI

Document Type : Case Report

Authors

1 Pediatrics, PGIMER, Chandigarh, India

2 PGIMER, Chandigarh

3 Department of Plastic Surgery, PGIMER, Chandigarh

Abstract

Introduction: Oral-facial-digital syndrome VI (OFD VI) is a rare and complex hereditary disorder. It is characterized by developmental abnormalities such as dental anomalies, and facial, and digital anomalies: polydactyly, and duplication of thumb and halluces. Here, we characterize orofacial digital syndrome type VI in two families. Methods: Patients were evaluated clinically, and anthropometrically, and with X-ray examination of hands and feet, genetic testing by whole exome sequencing, and imaging by MRI Scan off th brain. Results: Both patients had facial dysmorphism, oral findings and digital anomalies including polydactyly.We found splice site variant pathogenic variation on the CPLANE1 gene in both the unrelated patients. Discussion: On X-ray radiometric examination of hands, we found hypo-plastic middle phalanges of hands. The identified CPLANE1 variant is possibly a recurrent variant in the gene causing OFD type VI in different ethnicities. Our findings reflect variable phenotypic presentations and add to the clinical spectrum of OFD VI.

Keywords

Files

History

  • Receive Date: 13 April 2024
  • Revise Date: 14 July 2024
  • Accept Date: 20 April 2024

Share

How to cite

Statistics