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Article

Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses.

Mechanisms of ageing and development - 1 Oct 2018

Sanchez-Roman Ines, Lautrup Sofie, Aamann Maria Diget, Neilan Edward G, Østergaard John R, Stevnsner Tinna

Abstract excerpt

Cockayne Syndrome (CS) is a rare autosomal recessive disorder, which leads to neurodegeneration, growth failure and premature aging. Most of the cases are due to mutations in the ERCC6 gene, which encodes the protein CSB. CSB is involved in several functions including DNA repair and transcription. Here we describe two Danish brothers with CS. Both patients carried a novel splice site mutation (c.2382+2T>G), and a...

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Source

Identifiers

PMID: 29944916
DOI: 10.1016/j.mad.2018.06.001

Genes

ERCC6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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