Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
Joint Authors
Jiang, X. Y.
Jing, Fei
Kong, Lei
Wang, Dongxu
Li, Shanshan
Zhang, Chengsheng
Guan, Qingbo
Zhang, Zhenlin
Xu, Jin
Source
International Journal of Endocrinology
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-12-10
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kong, Lei& Wang, Dongxu& Li, Shanshan& Zhang, Chengsheng& Jiang, X. Y.& Guan, Qingbo…[et al.]. 2018. Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). International Journal of Endocrinology،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1172125
Modern Language Association (MLA)
Kong, Lei…[et al.]. Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). International Journal of Endocrinology No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1172125
American Medical Association (AMA)
Kong, Lei& Wang, Dongxu& Li, Shanshan& Zhang, Chengsheng& Jiang, X. Y.& Guan, Qingbo…[et al.]. Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). International Journal of Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1172125
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1172125