Department of Neonatology, Longyan First Affiliated Hospital of Fujian Medical University, No.105, Jiyi North Road, Xinluo District, Longyan, 364000, Fujian, China.
BMC Pediatr. 2021 Mar 12;21(1):123. doi: 10.1186/s12887-021-02585-4.
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2.
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.
Our case reported a novel pathogenic variant in ERCC2, which expanded the known genetic variants associated with TTD.
先天性毛发硫营养不良症（TTD）是一种罕见的常染色体隐性多系统疾病，最常见由 ERCC2 变异引起。
本文描述了首例 ERCC2 中新型变异的中国患者。一名男性婴儿，出生于健康非近亲夫妇，表现为脆发、脱发鱼鳞癣、湿疹、视网膜色素沉着和尿道下裂。他携带一种新型杂合 ERCC2 变异。该母体变异（c.2191-18_2213del）是先前描述的基因组缺失，影响 22 号内含子的剪接。父体变异（c.1666-1G>A）发生在 17 号内含子的剪接位点，可能通过异常剪接改变 ERCC2 基因功能，此前尚未报道。
本病例报道了 ERCC2 中的一种新型致病性变异，扩展了已知与 TTD 相关的遗传变异。
