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

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

doi:10.1186/s12887-021-02585-4

Jian-Dong Chen, Wei-Dong Liao + Show 2 more

Open Access

https://doi.org/10.1186/s12887-021-02585-4

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Abstract

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.

Highlights

Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder, which is characterized by sulfurdeficient brittle hair, ichthyosis, cutaneous photosensitivity, mental and physical retardation [1]
TTD is caused by the defects in transcription and nucleotide excision repair due to variants in DNA transcription-repair genes (ERCC2, ERCC3 and GTF2H5), which encode the distinct subunits of transcription/repair factor IIH (TFIIH) [2]

Summary

Introduction

Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2. The majority of TTD cases involved variants in the ERCC2 gene and presented a remarkable phenotypic heterogeneity [3]. We report the first infant case with TTD from China. The case was caused by a compound heterozygous ERCC2 variant, in which maternal variant (c.2191-18_2213del) has been described previously, but the paternal variant (c.1666-1G > A) is novel.

Results

Conclusion