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ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.

Journal Contribution - Journal Article

BACKGROUND: Trichothiodystrophy (TTD) describes a group of rare genetic disorders of DNA repair, characterized by sulphur-deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities and life-threatening infections.OBJECTIVES: The aim of this case report was to investigate the contribution of the gene mutation to the phenotype.METHODS: We describe the clinical and molecular characteristics of a family with two TTD-affected siblings who died before the age of 2 years.RESULTS: The causal mutated gene is the ERCC2 gene, and one of the identified mutations is the c.2164C>T (p.Arg722Trp) variant. The association of this mutation with a severe TTD phenotype was suggested earlier in literature, and the present family adds further evidence to this hypothesis.CONCLUSION: Accurate identification of the underlying genetic defect can guide the clinical follow-up and counselling of patients and their families.
Journal: Journal of the European Academy of Dermatology & Venereology
ISSN: 0926-9959
Issue: 4
Volume: 34
Pages: 876-879
Publication year:2020
CSS-citation score:1
Accessibility:Closed