Expanding the molecular genetic landscape of dystrophinopathies and associated phenotypes

zu Verbundenen Objekten

Abstract: Background/Objectives: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the DMD gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. Methods: We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the DMD gene that have not been described in the literature thus far. For all patients we provide additional data on the clinical course, genotype–phenotype correlations as well as histological datasets of nine patients. In two cases, we used RNA-Seq analyses, showing that this method can be particularly helpful in cases of deep intrinsic variants. Results: We were able to show, that a combination of the different datasets is helpful to counsel families and provides a better understanding of the underlying pathophysiology. Conclusions: Overall, we elaborated upon the persistent challenge of determining the course of disease from genetic analysis alone, rather supporting the concept of a clinical continuum of dystrophinopathies with our combined clinical, histological and molecular genetic findings

Standort
Deutsche Nationalbibliothek Frankfurt am Main
Umfang
Online-Ressource
Sprache
Englisch
Anmerkungen
Biomedicines. - 12, 12 (2024) , 2738, ISSN: 2227-9059

Ereignis
Veröffentlichung
(wo)
Freiburg
(wer)
Universität
(wann)
2024
Urheber

DOI
10.3390/biomedicines12122738
URN
urn:nbn:de:bsz:25-freidok-2609157
Rechteinformation
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Letzte Aktualisierung
21.04.1970, 13:45 MEZ

Datenpartner

Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Original beim Datenpartner anzeigen

Beteiligte

Entstanden

  • 2024

Ähnliche Objekte (12)

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Presynaptic congenital myasthenic syndromes: understanding clinical phenotypes through in vivo models

Presynaptic congenital myasthenic syndromes: understanding clinical phenotypes through in vivo models

Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)

Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations

The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations

Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database

Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database

Verbundene Objekte