Retraction notice to "Effect of section thickness on microstructure and mechanical properties of compacted graphite iron for diesel engine applications" [Heliyon 7 (2021) e05930]

Year: 2025

Type: retraction

Abstract: 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 paternal half-siblings affected with clinical TCS, and their apparently unaffected father.Diagnostic short-read RNA sequencing) identified aberrant expression of TCOF1 and optical genome mapping detected a large genomic insertion therein.Long-read genome sequencing (lrGS) resolved a deep intronic 3.5 kb SINE-VNTR-Alu (SVA) retrotransposon insertion in intron 17 of TCOF1.Long-read RNA sequencing (lrRNA-seq) demonstrated that the insertion was partially exonized inducing isoform switch to the shorter non-canonical TCOF1 isoform c.SVA insertion was confirmed in both half-siblings, and we detected mosaicism in the father.This work demonstrates the potential of lrRNA-seq and lrGS, to identify pathogenic variants in unexplained genetic disorders.

Source: Heliyon

DOI: 10.1016/j.heliyon.2025.e44129

Authors: Mahmoud A. Essam, Ahmed Y. Shash, Hassan Megahed, Emad El-Kashif

Institutions: Higher Technological Institute, Cairo University, German University in Cairo

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,270