Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
| العنوان: | Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) |
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| المؤلفون: | Dongxu Wang, Jin Xu, Qingbo Guan, Fei Jing, Lei Kong, Zhenlin Zhang, Xiuyun Jiang, Shanshan Li, Chengsheng Zhang |
| المصدر: | International Journal of Endocrinology International Journal of Endocrinology, Vol 2018 (2018) |
| بيانات النشر: | Hindawi Limited, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, Mutation, lcsh:RC648-665, Article Subject, Endocrine and Autonomic Systems, business.industry, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, medicine.disease_cause, lcsh:Diseases of the endocrine glands. Clinical endocrinology, DNA sequencing, 03 medical and health sciences, genomic DNA, Exon, Endocrinology, X-linked spondyloepiphyseal dysplasia tarda, Clinical diagnosis, Medicine, Missense mutation, business, Gene, Research Article |
| الوصف: | Objective. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. Methods. We extracted genomic DNA from five members of a four-generation Chinese SEDT kindred with three affected males and then analyzed the genetic mutation by PCR and DNA sequencing. Results. DNA sequencing showed that the genetic missense mutation occurred one bp upstream of exon 6 in the SEDL gene in two families, and a heterozygous mutation was found in a female carrier. In addition, no mutation was found in the other members of the family. Conclusion. SEDT in this family was caused by a G/C missense mutation in exon 6 of the SEDL gene, previously not shown to be associated with X-linked SEDT. |
| وصف الملف: | text/xhtml |
| تدمد: | 1687-8345 1687-8337 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5f8cb8c9bddbf71421c991699efb540Test https://doi.org/10.1155/2018/8263136Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a5f8cb8c9bddbf71421c991699efb540 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16878345 16878337 |
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