ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.

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.