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ERCC 2 mutations in two siblings with a severe trichothiodystrophy phenotype
Author(s) -
Leemans G.,
De Raeve L.,
Keymolen K.
Publication year - 2020
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.16134
Subject(s) - medicine , phenotype , mutation , genetics , gene , dna repair , genetic counseling , bioinformatics , biology
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 ERCC 2 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.