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

Jian-Dong Chen, Wei-Dong Liao, Ling-Ying Wen, Rong-Hua Zhong

BMC pediatrics 2021 Mar 12

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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.

Citation

Jian-Dong Chen, Wei-Dong Liao, Ling-Ying Wen, Rong-Hua Zhong. Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China. BMC pediatrics. 2021 Mar 12;21(1):123