Related Experiment Video
Updated: Nov 13, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China
Jian-Dong Chen1, Wei-Dong Liao1, Ling-Ying Wen1
1Department of Neonatology, Longyan First Affiliated Hospital of Fujian Medical University, No.105, Jiyi North Road, Xinluo District, Longyan, 364000, Fujian, China.
Background:
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2.
Case Presentation:
Here, we describe the first Chinese patient with a novel variant in ERCC2. A male infant, who was born to a healthy non-consanguineous couple, exhibited brittle hair, hair loss ichthyosis, eczema, retinal pigmentation and hypospadias. He carried a novel heterozygous ERCC2 variant. The maternal variant (c.2191-18_2213del) is a previous described genomic deletion that affects the splicing of intron 22. The paternal variant (c.1666-1G > A), that occurs in the splice site of intron 17 and likely alters ERCC2 gene function through aberrant splicing, has not been reported previously.
Conclusions:
Our case reported a novel pathogenic variant in ERCC2, which expanded the known genetic variants associated with TTD.
More Related Videos
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019