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Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis.

Scientific reports - 26 Aug 2024

Watanabe Daisuke, Okamoto Nobuhiko, Kobayashi Yuichi, Suzuki Hisato, Kato Mitsuhiro, Saitoh Shinji, Kanemura Yonehiro, Takenouchi Toshiki, Yamada Mamiko, Nakato Daisuke, Sato Masayuki, Tsunoda Tatsuhiko, Kosaki Kenjiro, Miya Fuyuki

Abstract excerpt

Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC8 or ERCC6. Most pathogenic variants in ERCC8 are single nucleotide substitutions. Structural variants (SVs) have been reported in patients with ERCC8-related CS. However, comprehensive molecular detection, including SVs of ERCC8, in CS patients remains problematic. Herein, we present three Japanese patients with...

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PMID: 39187681
DOI: 10.1038/s41598-024-70831-7
PMCID: PMC11347644

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