دورية أكاديمية
A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
| العنوان: | A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report |
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| المؤلفون: | Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang, Xiumin Wang |
| المصدر: | BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021) |
| بيانات النشر: | BMC, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | Type II collagenopathies, COL2A1 gene, Whole-exome sequencing, Novel variant, Rare complex syndrome, Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Abstract Background Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal dominant disease, whereas some rare cases with autosomal recessive inheritance of mode have also been identified. Case presentation The patient was a 5-year-old male with a short neck, flat face, epiphyseal dysplasia, irregular vertebral endplates, and osteochondritis. Sequencing result indicated NM_001844.4: c.3662C > T; p. (Ser1221Phe) a novel missense variant, leading to a serine-to-phenylalanine substitution. Sanger sequencing confirmed the variant compared to his parents and brother. Conclusions We identified a novel homozygous variant of the COL2A1 gene as the cause of type II collagenopathies in a Chinese male, enriching the spectrum of genotypes. This is the first case of type II collagenopathies inherited in an autosomal recessive manner in China and East Asia, and it is the first case that resulted from serine substitution in the world. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1755-8794 |
| Relation: | https://doaj.org/toc/1755-8794 |
| DOI: | 10.1186/s12920-021-01048-0 |
| URL الوصول: | https://doaj.org/article/9c8279160a45475284a3b828201879f5 |
| رقم الأكسشن: | edsdoj.9c8279160a45475284a3b828201879f5 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 17558794 |
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| DOI: | 10.1186/s12920-021-01048-0 |