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Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in<i>TCOF1</i>causing Treacher Collins syndrome

2025-04-26

Abstract excerpt

Treacher Collins syndrome (TCS) is a craniofacial genetic disorder caused by loss of function variants in TCOF1, POLR1B, POLR1C or POLR1D . Here we describe two previously undiagnosed half-siblings affected with clinical TCS, and their apparently unaffected parent. Diagnostic short-read RNA-Sequencing identified aberrant expression of TCOF1 and optical genome mapping detected a large genomic insertion therein. Lon...

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Literature Corpus work: 4b10345d-198d-5a45-b3fb-31cf62120177
DOI: 10.1101/2025.04.24.25326319

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Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in<i>TCOF1</i>causing Treacher Collins syndromeDOI 10.1101/2025.04.24.25326319Read

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