Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

Lei Kong; Dongxu Wang; Shanshan Li; Chengsheng Zhang; Xiuyun Jiang; Qingbo Guan; Zhenlin Zhang; Fei Jing; Jin Xu

doi:10.1155/2018/8263136

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

Int J Endocrinol. 2018 Dec 10:2018:8263136. doi: 10.1155/2018/8263136. eCollection 2018.

Authors

Lei Kong^{1

2

3}, Dongxu Wang⁴, Shanshan Li^{5

6}, Chengsheng Zhang⁴, Xiuyun Jiang^{1

2

3}, Qingbo Guan^{1

2

3}, Zhenlin Zhang^{5

6}, Fei Jing^{1

2

3}, Jin Xu^{1

2

3}

Affiliations

¹ Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, China.
² Shandong Clinical Medical Centre of Endocrinology and Metabolism, China.
³ Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, China.
⁴ Shandong Cancer Hospital, China.
⁵ Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, China.
⁶ Shanghai Key Clinical Centre for Metabolic Disease, China.

Abstract

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.