Advances in Clinical Genetics of the Ehlers-Danlos Syndromes
10.12376/j.issn.2097-0501.2024.03.004
- VernacularTitle:Ehlers-Danlos综合征的临床遗传学研究进展
- Author:
Kexin XU
1
;
Guozhuang LI
;
Qing LI
;
Xiangjie YIN
;
Kun FANG
;
Zhihong WU
;
Jianguo ZHANG
;
DISCO(Deciphering Disorders Involving Scoliosis & COmorbidities)Study Group
;
Nan WU
Author Information
1. 中国医学科学院北京协和医院骨科,北京 100730;中国医学科学院北京协和医院骨骼畸形遗传学研究北京市重点实验室中国医学科学院脊柱畸形大数据研究与应用重点实验室,北京 100730
- Keywords:
Ehlers-Danlos syndromes;
clinical genetics;
genotype-phenotype correlation;
whole genome sequencing;
RNA sequencing;
deep phenotyping
- From:
JOURNAL OF RARE DISEASES
2024;3(3):295-303
- CountryChina
- Language:Chinese
-
Abstract:
The Ehlers-Danlos syndromes(EDS)are a group of rare hereditary connective tissue disorders characterized by joint hypermobility,skin hyperextensibility,and tissue fragility.The clinical and genetic hetero-geneity of EDS frequently leads to underdiagnosis and misdiagnosis.Genetic testing is an essential approach to clarify the underlying diagnosis.Recent research has preliminarily established genotype-phenotype correlations and introduced the novel concept of"disease spectrum"in some subtypes.These studies deepen our under-standing of EDS etiology and provide important insights into clinical management.Published in 2023,the Chinese Guidelines for Diagnosis and Treatment of the Ehlers-Danlos Syndromes(the Guidelines)recommend performing genetic testing with deep phenotyping for patients who meet the clinical diagnostic criteria or are sus-pected of having EDS.However,it should be noted that the clinical diagnosis might differ from the molecular diagnosis.Furthermore,cutting-edge approaches such as periodic data reanalysis,integration of RNA sequen-cing into family-based whole-genome sequencing,and third-generation sequencing may facilitate the reclassifi-cation of variants of uncertain significance or resolve undiagnosed cases.This article summarizes recent progress in the genetics research of EDS,with the hope of offering a valuable resource for clinical diagnosis,treatment and scientific research to optimize the quality of life of patients with EDS.
