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Congenital Titinopathies Linked to Mutations in Metatranscript-Only Exons.
Int J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.
View Article and Find Full Text PDFNovel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.
Eur J Hum Genet
December 2024
Laboratory of Genetic Skin Diseases, Institut Imagine, Université Paris Cité, Inserm, UMR 1163, F-75015, Paris, France.
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions.
View Article and Find Full Text PDFA homozygous nonsense mutation identified in in a family with autosomal recessive dystrophic epidermolysis bullosa.
J Med Life
September 2024
Center for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Kingdom of Saudi Arabia.
Article Synopsis
- Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin disorder caused by mutations in a specific gene, presenting with symptoms like skin erosions and atrophic scars.
- A study of a four-generation consanguineous family identified a harmful genetic mutation, c.409C>T (p.Arg137*), in two patients with RDEB through whole exome sequencing (WES).
- The findings highlight the importance of WES in diagnosing complex genetic diseases and contribute to understanding the mutation spectrum of the gene in different populations.
Systemic treatment of recessive dystrophic epidermolysis bullosa with mesenchymal stromal cells: a scoping review of the literature and conclusions for future clinical research.
J Dermatolog Treat
December 2024
RHEACELL GmbH & Co. KG, Heidelberg, Germany.
Article Synopsis
- - Mesenchymal stromal cells (MSCs) show promise as a treatment for recessive dystrophic epidermolysis bullosa (RDEB), potentially aiding in tissue repair and improving collagen VII at the skin layer junction.
- - A review of clinical research from PubMed revealed that six early-phase studies and one case report involved 59 patients receiving MSC infusions, with only a few mild adverse events and overall positive feedback on skin improvements and quality of life.
- - While the evidence is still limited due to the challenges of studying rare diseases, the results suggest MSC therapy could benefit RDEB patients, warranting further investigation into this treatment method.
Safety and tolerability of losartan to treat recessive dystrophic epidermolysis bullosa in children (REFLECT): an open-label, single-arm, phase 1/2 trial.
EClinicalMedicine
November 2024
Department of Dermatology, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Article Synopsis
- Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin condition that causes blisters and other complications, and this study tested the safety of losartan, a medication that may slow its progression.
- The study was a phase 1/2 trial involving children aged 2-16 with confirmed RDEB, focusing on identifying any serious side effects of losartan over a treatment period of 10 months.
- Primary safety concerns monitored included severe drops in blood pressure, allergic reactions, and changes in potassium levels, along with evaluating the drug's effectiveness through various clinical scores.
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