Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China

BMC Pediatrics

Ling-Ying Wen¹  Rong-Hua Zhong¹  Wei-Dong Liao¹  Jian-Dong Chen¹ 

[1] Department of Neonatology, Longyan First Affiliated Hospital of Fujian Medical University, No.105, Jiyi North Road, Xinluo District, 364000, Longyan, Fujian, China;

关键词: ERCC2;    Trichothiodystrophy;    Brittle hair;    Genodermatoses;    Novel variant;   

DOI  :  10.1186/s12887-021-02585-4

来源: Springer

【 摘 要 】

BackgroundTrichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2.Case presentationHere, 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.ConclusionsOur case reported a novel pathogenic variant in ERCC2, which expanded the known genetic variants associated with TTD.

【 授权许可】

CC BY