Recurrent CPLANE1 splice site variant in Oro-facial-digital syndrome OFD VI | ||
| Egyptian Journal of Oral and Maxillofacial Surgery | ||
| Volume 15, Issue 3, July 2024, Pages 131-134 PDF (595.91 K) | ||
| Document Type: Case Report | ||
| DOI: 10.21608/omx.2024.282667.1236 | ||
| Authors | ||
| Inusha Panigrahi* 1; Shalini Dhiman2; Karandeep Kaur2; Karthik Adari2; Satya Swarup Tripathy3 | ||
| 1Pediatrics, PGIMER, Chandigarh, India | ||
| 2PGIMER, Chandigarh | ||
| 3Department 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 | ||
| ciliopathy; oro-facial-digital syndrome (OFD); polydactyly; dental anomalies; short stature | ||
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