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Systems Genomics, Mitochondrial Dysfunction, and Immune Dysregulation in Ehlers–Danlos Syndromes...
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Systems Genomics, Mitochondrial Dysfunction, and Immune Dysregulation in Ehlers–Danlos Syndromes and Heritable Connective Tissue Disorders

A Special Issue of Genes (ISSN 2073-4425) belonging to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (25 May 2026) | Viewed by 1333

Editor

Dr. Arash Shirvani

E-Mail Website
Guest Editor
Ehlers–Danlos Syndrome Clinical Research Program, Section of Endocrinology, Diabetes, Nutrition and Weight Management, Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA
Interests: medical genetics; Ehlers–Danlos syndromes; heritable connective tissue disorders; osteogenesis imperfecta; mitochondrial dysfunction; mast cell activation and immune dysregulation; skeletal fragility; precision and genomic medicine; vitamin D; multiple sclerosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Ehlers–Danlos syndromes (EDSs) and related heritable connective tissue disorders represent a genetically and clinically heterogeneous group of conditions that remain underdiagnosed and frequently misunderstood. Recent work has begun to uncover complex interactions among extracellular matrix genes; immune dysregulation, including mast cell activation; and mitochondrial dysfunction that may contribute to tissue fragility, pain, dysautonomia, and systemic complications. This Special Issue will highlight advances in gene discovery, variant interpretation, and genotype–phenotype correlations across the EDS spectrum, including hypermobile EDS, as well as insights from multi-omics and functional studies. We welcome original research, comprehensive reviews, and case-based translational studies that integrate genomics with mechanistic and clinical data to refine disease classification, improve diagnostic strategies, and inform precision management. By bringing together experts across genetics, molecular biology, immunology, and clinical medicine, this Special Issue aims to accelerate progress toward better outcomes for individuals living with these challenging disorders.

Dr. Arash Shirvani
Guest Editor

Manuscript Submission Information

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Keywords

  • Ehlers–Danlos syndrome
  • hypermobile Ehlers–Danlos syndrome
  • heritable connective tissue disorders
  • human genomics
  • mitochondrial dysfunction
  • mast cell activation
  • variant interpretation
  • genotype–phenotype correlation
  • multi-omics
  • precision medicine

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Published Papers (1 paper)

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10 pages, 5799 KB  
Case Report
A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers–Danlos Syndrome Phenotype: A Case Report
by Tatiana Markova, Evgeniya Melnik, Maksim Kurelev, Tatiana Cherevatova, Alexandra Nikolaeva, Daria Gorodilova, Nina Demina and Elena Dadali
Genes 2026, 17(6), 679; https://doi.org/10.3390/genes17060679 - 10 Jun 2026
Viewed by 793
Abstract
Background/Objectives: Arthrochalasia Ehlers–Danlos syndrome (aEDS) is a rare connective tissue disorder characterized by severe joint hypermobility, congenital hip dislocation, skin hyperextensibility, and muscle hypotonia. It is typically caused by heterozygous splice-site variants in COL1A1 or COL1A2, leading to exon 6 skipping. Autosomal [...] Read more.
Background/Objectives: Arthrochalasia Ehlers–Danlos syndrome (aEDS) is a rare connective tissue disorder characterized by severe joint hypermobility, congenital hip dislocation, skin hyperextensibility, and muscle hypotonia. It is typically caused by heterozygous splice-site variants in COL1A1 or COL1A2, leading to exon 6 skipping. Autosomal recessive forms are extremely rare and have been reported predominantly in families from Saudi Arabia carrying the homozygous COL1A1 missense variant c.2050G>A, p.(Glu684Lys), with clinical presentations ranging from severe to mild. Methods: Clinical and molecular genetic evaluation of the patient was performed. Whole-exome sequencing was carried out, followed by confirmatory Sanger sequencing in the proband and both parents. Results: A 10-month-old boy presented with severe congenital hypotonia, bilateral hip dislocation, generalized joint hypermobility, skin hyperextensibility and craniofacial dysmorphism. A homozygous likely pathogenic variant NM_000088.4:c.2050G>A, p.(Glu684Lys) was identified in exon 31 of COL1A1; both healthy parents were confirmed to be heterozygous carriers of this variant. To our knowledge this is the first reported case in the Russian population and one of the few cases described worldwide of an autosomal recessive arthrochalasia-like EDS phenotype. Conclusions: This case further refines the phenotypic characterization associated with the recurrent homozygous COL1A1 p.(Glu684Lys) variant, demonstrating an arthrochalasia-like EDS phenotype of intermediate severity between the severe neonatal form with respiratory distress and recurrent fractures and the classical EDS. It further highlights the importance of considering collagenopathies in the differential diagnosis of congenital hypotonia, particularly in cases initially suggestive of neuromuscular disorders. Full article
(This article belongs to the Special Issue Systems Genomics, Mitochondrial Dysfunction, and Immune Dysregulation in Ehlers–Danlos Syndromes and Heritable Connective Tissue Disorders)
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