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Article

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.

Aging - 22 Jun 2022

Duong Nguyen Thuy, Dinh Tran Huu, Möhl Britta S, Hintze Stefan, Quynh Do Hai, Ha Duong Thi Thu, Ngoc Ngo Diem, Dung Vu Chi, Miyake Noriko, Hai Nong Van, Matsumoto Naomichi, Meinke Peter

Abstract excerpt

Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic ERCC8 (CS-A) or ERCC6 (CS-B) variants. In this study we describe siblings suffering from classical Cockayne syndrome but without photosensitivity, which delayed a clinical diagnosis for 16 years. By whole-exome sequencing we identified the two...

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PMID: 35748794
DOI: 10.18632/aging.204139
PMCID: PMC9320540

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