中国首例原发脆性综合征患儿 ERCC2 新变异：病例报告。
Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China.
机构信息
Department of Neonatology, Longyan First Affiliated Hospital of Fujian Medical University, No.105, Jiyi North Road, Xinluo District, Longyan, 364000, Fujian, China.
出版信息
BMC Pediatr. 2021 Mar 12;21(1):123. doi: 10.1186/s12887-021-02585-4.
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.
背景
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。
病例介绍
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。
结论
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。
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