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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.

Genes - 29 Nov 2021

Zayoud Khouloud, Kraoua Ichraf, Chikhaoui Asma, Calmels Nadège, Bouchoucha Sami, Obringer Cathy, Crochemore Clément, Najjar Dorra, Zarrouk Sinda, Miladi Najoua, Laugel Vincent, Ricchetti Miria, Turki Ilhem, Yacoub-Youssef Houda

Abstract excerpt

Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in ERCC6/CSB with a severe phenotype. After clinical examination, two patients were investigated via next generation sequencing, targeting seventeen Nucleotide Excision Repair (NER) genes. All three patients harbored a novel,...

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Identifiers

PMID: 34946871
DOI: 10.3390/genes12121922
PMCID: PMC8701866

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