A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia-Reference-Cited by-同舟云学术

A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia

Published:2022-12-27 Issue: Volume: Page:658-661
ISSN:1304-9623
Container-title:Harran Üniversitesi Tıp Fakültesi Dergisi
language:tr
Short-container-title:

Author:

ÇETİN Baki Volkan¹,SİPAHİOĞLU Serkan²,GÜMÜŞ Everen³

Affiliation:

1. HARRAN ÜNİVERSİTESİ, TIP FAKÜLTESİ

2. ORDU UNIVERSITY, SCHOOL OF MEDICINE

3. MUGLA SITKI KOCMAN UNIVERSITY, FACULTY OF MEDICINE

Abstract

Spondyloepiphyseal Dysplasia (SED) accompanying with congenital joint dislocations; is a genetic disease with different subtypes that progress with multiple dislocations. It occurs due to a mutation in the CHST3 gene. This syndrome requires long and cascading surgeries, which presents with short-bodied dwarfism, joint dislocations and range of motion (ROM) limitations (knee, hip, elbow). In this case report, we describe an in frame type deletion reported for the first time. We also included the step-by-step surgery program applied to the patient and its results.

Publisher

Harran Universitesi Tip Fakultesi Dergisi

Subject

General Medicine

Reference10 articles.

1. Referans1:Albuz B., Çetin G.O., Özhan B., Sarikepe B., Anlaş Ö., Öztürk M., et al. A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type. Clinical Dysmorphology. 2020;29:61–4.

2. Referans2:Superti-Furga A, Unger S. CHST3-Related Skeletal Dysplasia. 2011 Sep 1 [Updated 2019 Jan 31]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/

3. Referans3:Thiele H., Sakano M., Kitagawa H., Sugahara K., Rajab A., Höhne W., et al. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA. 2004;101:10155–60.

4. Referans4:Unger S., Lausch E., Rossi A., Mégarbané A., Sillence D., Alcausin M. et al. Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features. Am J Med Genet Part A. 2010;152A:2543–9.

5. Referans5:Srivastava P., Pandey H., Agarwal D., Mandal K., Phadke S.R. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. Am J Med Genet A. 2017; 173:163–8.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Missense Variant in the <i>CHST3</i> Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations;Molecular Syndromology;2024-03-27