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Article

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.

Orphanet journal of rare diseases - 5 Mar 2022

Chikhaoui Asma, Kraoua Ichraf, Calmels Nadège, Bouchoucha Sami, Obringer Cathy, Zayoud Khouloud, Montagne Benjamin, M'rad Ridha, Abdelhak Sonia, Laugel Vincent, Ricchetti Miria, Turki Ilhem, Yacoub-Youssef Houda

Abstract excerpt

BACKGROUND: Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large heterogeneity of clinical symptoms and severities, the reason of which is not fully understood, and that cannot be anticipated in the diagnostic phase. In...

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Identifiers

PMID: 35248096
DOI: 10.1186/s13023-022-02257-1
PMCID: PMC8898519

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