Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report

We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the potential molecular mechanism of JS.PMID:36719180 | DOI:10.1111/cge.14306

Source: Clinical Genetics - January 31, 2023 Category: Genetics & Stem Cells Authors: Francisco Mart ínez-Granero Elena Mart ínez-Cayuelas Cristina Rodilla Gonzalo N úñez-Moreno Marta Rodr íguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera Source Type: research