The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a
hypermobile type of Ehlers-Danlos syndrome

Anna Junkiert-Czarnecka; Maria Pilarska-Deltow; Aneta Bąk; Marta Heise; Olga Haus

doi:10.5114/ada.2022.124107

eISSN: 2299-0046
ISSN: 1642-395X

Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii

Current issue Archive Manuscripts accepted About the journal Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Publication charge Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

1/2023
vol. 40

Send email

Copy url:

abstract:

Original paper

The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome

Anna Junkiert-Czarnecka

¹

,

Maria Pilarska-Deltow

¹

,

Aneta Bąk

¹

,

Marta Heise

¹

,

Olga Haus

¹

Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland

Adv Dermatol Allergol 2023; XL (1): 102-106

DOI: https://doi.org/10.5114/ada.2022.124107

Online publish date: 2023/01/13

View full text Get citation

EndNote

Papers, Reference Manager, RefWorks, Zotero

AMA

Junkiert-Czarnecka A, Pilarska-Deltow M, Bąk A, Heise M, Haus O. The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a
hypermobile type of Ehlers-Danlos syndrome. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2023;40(1):102-106. doi:10.5114/ada.2022.124107.

APA

Junkiert-Czarnecka, A., Pilarska-Deltow, M., Bąk, A., Heise, M.,  & Haus, O. (2023). The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a
hypermobile type of Ehlers-Danlos syndrome. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 40(1), 102-106. https://doi.org/10.5114/ada.2022.124107

Chicago

Junkiert-Czarnecka, Anna, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise,  and Olga Haus. 2023. "The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a
hypermobile type of Ehlers-Danlos syndrome". Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii 40 (1): 102-106. doi:10.5114/ada.2022.124107.

Harvard

Junkiert-Czarnecka, A., Pilarska-Deltow, M., Bąk, A., Heise, M.,  and Haus, O. (2023). The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a
hypermobile type of Ehlers-Danlos syndrome. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 40(1), pp.102-106. https://doi.org/10.5114/ada.2022.124107

MLA

Junkiert-Czarnecka, Anna et al. "The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a
hypermobile type of Ehlers-Danlos syndrome." Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, vol. 40, no. 1, 2023, pp. 102-106. doi:10.5114/ada.2022.124107.

Vancouver

Junkiert-Czarnecka A, Pilarska-Deltow M, Bąk A, Heise M, Haus O. The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a
hypermobile type of Ehlers-Danlos syndrome. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2023;40(1):102-106. doi:10.5114/ada.2022.124107.

Introduction:
Hypermobile (hEDS) Ehlers-Danlos syndrome (EDS) is a non-inflammatory, autosomal dominant connective tissue disorder. hEDS, unlike other types of EDS, has no known genetic aetiology, so diagnosis is conducted based on a person’s medical history, a physical examination, and exclusion of other types of EDS after genetic tests.

Aim:
The present study was a sequencing analysis of the SERPINH1 gene and the evaluation of the potential impact of variants of this gene on their role in the aetiology of the hypermobile type of EDS.

Material and methods:
The study group included 100 hEDS patients of Polish origin. The SERPINH1 gene analysis was performed on genomic DNA (gDNA). In all patients, other types of EDS or other connective tissue disorders were excluded by testing them with NGS technology.

Results:
Among 100 tested patients, 4 different types of missense variants (heterozygote) were detected. All SERPINH1 alterations were classified as benign according to ACMG guidelines.

Conclusions:
Mutations in the SERPINH1 gene have been described in a rare type of OI but have never been analysed in hypermobile Ehlers-Danlos syndrome. In our investigation among 100 hEDS patients, we did not identify pathogenic or likely pathogenic variants. Though only benign variants were detected, which play no role in the pathogenesis of hEDS, we should take into account mechanisms other than gene structure alterations, which may have an impact on collagen and other ECM protein transport.

keywords:

The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome

Anna Junkiert-Czarnecka 1 , Maria Pilarska-Deltow 1 , Aneta Bąk 1 , Marta Heise 1 , Olga Haus 1

collagen, Ehlers-Danlos syndrome, hypermobility, SERPINH1, HSP47

Anna Junkiert-Czarnecka

¹

,

Maria Pilarska-Deltow

¹

,

Aneta Bąk

¹

,

Marta Heise

¹

,

Olga Haus

¹