Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China
Abstract 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 coupl...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-03-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-021-02585-4 |
| _version_ | 1818872451810983936 |
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| author | Jian-Dong Chen Wei-Dong Liao Ling-Ying Wen Rong-Hua Zhong |
| author_facet | Jian-Dong Chen Wei-Dong Liao Ling-Ying Wen Rong-Hua Zhong |
| author_sort | Jian-Dong Chen |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-19T12:39:02Z |
| format | Article |
| id | doaj.art-2c054ef4c6154f749b233416bf322393 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-12-19T12:39:02Z |
| publishDate | 2021-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-2c054ef4c6154f749b233416bf3223932022-12-21T20:21:02ZengBMCBMC Pediatrics1471-24312021-03-012111410.1186/s12887-021-02585-4Novel ERCC2 variant in trichothiodystrophy infant: the first case report in ChinaJian-Dong Chen0Wei-Dong Liao1Ling-Ying Wen2Rong-Hua Zhong3Department of Neonatology, Longyan First Affiliated Hospital of Fujian Medical UniversityDepartment of Neonatology, Longyan First Affiliated Hospital of Fujian Medical UniversityDepartment of Neonatology, Longyan First Affiliated Hospital of Fujian Medical UniversityDepartment of Neonatology, Longyan First Affiliated Hospital of Fujian Medical UniversityAbstract 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.https://doi.org/10.1186/s12887-021-02585-4ERCC2TrichothiodystrophyBrittle hairGenodermatosesNovel variant |
| spellingShingle | 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 ERCC2 Trichothiodystrophy Brittle hair Genodermatoses Novel variant |
| title | Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China |
| title_full | Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China |
| title_fullStr | Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China |
| title_full_unstemmed | Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China |
| title_short | Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China |
| title_sort | novel ercc2 variant in trichothiodystrophy infant the first case report in china |
| topic | ERCC2 Trichothiodystrophy Brittle hair Genodermatoses Novel variant |
| url | https://doi.org/10.1186/s12887-021-02585-4 |
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