G Leemans1, L De Raeve2, K Keymolen3. 1. Department of Dermatology and Pathology, Universitair Ziekenhuis Brussel (UZB), Vrije Universiteit Brussel (VUB), Brussels, Belgium. 2. Department of Dermatology, Universitair Ziekenhuis Brussel (UZB), Vrije Universiteit Brussel (VUB), Brussels, Belgium. 3. Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZB), Vrije Universiteit Brussel (VUB), Brussels, Belgium.
Abstract
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.
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.