Article

Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI

2026-03-23

Abstract excerpt

<title>Abstract</title> Orofaciodigital syndrome type VI (OFD VI) is a recessive ciliopathy characterized by excessive polydactyly, molar tooth sign, cleft lip, and developmental delay, caused by pathogenic variants in <italic>CPLANE1</italic> . Here, we present a patient with OFD VI that remained genetically unexplained after routine genetic testing, including short-read whole genome sequencing (WGS). Usi...

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Literature Corpus work: 2a9ced56-9799-58e3-a2a1-de58ca9c36be
DOI: 10.21203/rs.3.rs-9094779/v1

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