LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
Joint Authors
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-07-25
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance.
The most common form worldwide is considered to be merosin-deficient muscle dystrophy type 1A, called MDC1A (due to laminin-α2 defects as a result of LAMA2 gene mutation), accounting for 30-40% of total cases of CMD.
The exact molecular and clinical diagnoses, respectively, are a prerequisite for the most effective treatment; sometimes orphan drugs exist for some rare diseases.
One of such drugs is Tarix, which was FDA approved and announced in 2016 for treatment of MDC1A.
Here we present a patient diagnosed postmortem as having early-onset LAMA2-related muscular dystrophy as a result of mutations in LAMA2, identified by Sanger sequencing in his parents: a novel nonsense mutation c.4452T>A in exon 31, identified in the mother, and a known pathogenic nonsense mutation c.2901C>A in exon 21, detected in the father.
The truncating nature of both nonsense mutations made the clinical presentation severe and the outcome fatal.
Genetic analysis in such cases of muscle dystrophy is of utmost impact, because it makes the correct diagnosis with at least some specific options for treatment, makes the prognosis depending on the severity of mutation discovered, determines reproductive risk, and offers prophylaxis in the family by means of prenatal or preimplantation diagnostics.
American Psychological Association (APA)
Dimova, I.& Kremensky, Ivo. 2018. LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1143312
Modern Language Association (MLA)
Dimova, I.& Kremensky, Ivo. LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. Case Reports in Genetics No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1143312
American Medical Association (AMA)
Dimova, I.& Kremensky, Ivo. LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1143312
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143312