Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
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...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2018/8263136 |
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| author | Lei Kong Dongxu Wang Shanshan Li Chengsheng Zhang Xiuyun Jiang Qingbo Guan Zhenlin Zhang Fei Jing Jin Xu |
| author_facet | Lei Kong Dongxu Wang Shanshan Li Chengsheng Zhang Xiuyun Jiang Qingbo Guan Zhenlin Zhang Fei Jing Jin Xu |
| author_sort | Lei Kong |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5584c660341d4f9292322207032edcfa |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-5584c660341d4f9292322207032edcfa2025-02-03T06:12:28ZengWileyInternational Journal of Endocrinology1687-83371687-83452018-01-01201810.1155/2018/82631368263136Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)Lei Kong0Dongxu Wang1Shanshan Li2Chengsheng Zhang3Xiuyun Jiang4Qingbo Guan5Zhenlin Zhang6Fei Jing7Jin Xu8Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, ChinaShandong Cancer Hospital, ChinaMetabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, ChinaShandong Cancer Hospital, ChinaDepartment of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, ChinaDepartment of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, ChinaMetabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, ChinaDepartment of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, ChinaDepartment of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, ChinaObjective. 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.http://dx.doi.org/10.1155/2018/8263136 |
| spellingShingle | Lei Kong Dongxu Wang Shanshan Li Chengsheng Zhang Xiuyun Jiang Qingbo Guan Zhenlin Zhang Fei Jing Jin Xu Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) International Journal of Endocrinology |
| title | Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) |
| title_full | Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) |
| title_fullStr | Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) |
| title_full_unstemmed | Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) |
| title_short | Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) |
| title_sort | clinical diagnosis of x linked spondyloepiphyseal dysplasia tarda and a novel missense mutation in the sedlin gene sedl |
| url | http://dx.doi.org/10.1155/2018/8263136 |
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