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

Overview

Journal Int J Endocrinol

Publisher Wiley

Specialty Endocrinology

Date 2019 Jan 17

PMID 30647738

Citations 1

Authors

Lei Kong

Dongxu Wang

Shanshan Li

Chengsheng Zhang

Xiuyun Jiang

Qingbo Guan

Zhenlin Zhang

Fei Jing

Jin Xu

Affiliations

Soon will be listed here.

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 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 gene, previously not shown to be associated with X-linked SEDT.

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PMID: 39062121 PMC: 11274388. DOI: 10.3390/biomedicines12071548.

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