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

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, exhibi...

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Bibliographic Details
Published in:BMC Pediatrics 2021, Vol.21 (1)
Main Authors: Chen, Jian-Dong, Liao, Wei-Dong, Wen, Ling-Ying, Zhong, Rong-Hua
Format: Report
Language:English
Subjects:
Case studies
Diagnosis
Genetic aspects
Genetic disorders
Genetic variation
Health aspects
Multiple abnormalities
Pediatric research
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Summary: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. Keywords: ERCC2, Trichothiodystrophy, Brittle hair, Genodermatoses, Novel variant
ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-021-02585-4