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Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

Background: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy. Methods: To better characteriz...

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Autores principales: Marinella, Gemma, Orsini, Alessandro, Scacciati, Massimo, Costa, Elisa, Santangelo, Andrea, Astrea, Guja, Frosini, Silvia, Pasquariello, Rosa, Rubegni, Anna, Sgherri, Giada, Corsi, Martina, Bonuccelli, Alice, Battini, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379235/
https://www.ncbi.nlm.nih.gov/pubmed/37510268
http://dx.doi.org/10.3390/genes14071363
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author Marinella, Gemma
Orsini, Alessandro
Scacciati, Massimo
Costa, Elisa
Santangelo, Andrea
Astrea, Guja
Frosini, Silvia
Pasquariello, Rosa
Rubegni, Anna
Sgherri, Giada
Corsi, Martina
Bonuccelli, Alice
Battini, Roberta
author_facet Marinella, Gemma
Orsini, Alessandro
Scacciati, Massimo
Costa, Elisa
Santangelo, Andrea
Astrea, Guja
Frosini, Silvia
Pasquariello, Rosa
Rubegni, Anna
Sgherri, Giada
Corsi, Martina
Bonuccelli, Alice
Battini, Roberta
author_sort Marinella, Gemma
collection PubMed
description Background: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy. Methods: To better characterize the phenotypic spectrum of CACNA1S myopathy, we conducted a systematic review of cases in the literature through three electronic databases following the PRISMA guidelines. We selected nine articles describing 23 patients with heterozygous, homozygous, or compound heterozygous mutations in CACNA1S and we added one patient with a compound heterozygous mutation in CACNA1S (c.1394-2A>G; c.1724T>C, p.L575P) followed at our Institute. We collected clinical and genetic data, muscle biopsies, and muscle MRIs when available. Results: The phenotype of this myopathy is heterogeneous, ranging from more severe forms with a lethal early onset and mild–moderate forms with a better clinical course. Conclusions: Our patient presented a phenotype compatible with the mild–moderate form, although she presented peculiar features such as a short stature, myopia, mild sensorineural hearing loss, psychiatric symptoms, and posterior-anterior impairment gradient on thigh muscle MRI.
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spelling pubmed-103792352023-07-29 Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature Marinella, Gemma Orsini, Alessandro Scacciati, Massimo Costa, Elisa Santangelo, Andrea Astrea, Guja Frosini, Silvia Pasquariello, Rosa Rubegni, Anna Sgherri, Giada Corsi, Martina Bonuccelli, Alice Battini, Roberta Genes (Basel) Review Background: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy. Methods: To better characterize the phenotypic spectrum of CACNA1S myopathy, we conducted a systematic review of cases in the literature through three electronic databases following the PRISMA guidelines. We selected nine articles describing 23 patients with heterozygous, homozygous, or compound heterozygous mutations in CACNA1S and we added one patient with a compound heterozygous mutation in CACNA1S (c.1394-2A>G; c.1724T>C, p.L575P) followed at our Institute. We collected clinical and genetic data, muscle biopsies, and muscle MRIs when available. Results: The phenotype of this myopathy is heterogeneous, ranging from more severe forms with a lethal early onset and mild–moderate forms with a better clinical course. Conclusions: Our patient presented a phenotype compatible with the mild–moderate form, although she presented peculiar features such as a short stature, myopia, mild sensorineural hearing loss, psychiatric symptoms, and posterior-anterior impairment gradient on thigh muscle MRI. MDPI 2023-06-28 /pmc/articles/PMC10379235/ /pubmed/37510268 http://dx.doi.org/10.3390/genes14071363 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Marinella, Gemma
Orsini, Alessandro
Scacciati, Massimo
Costa, Elisa
Santangelo, Andrea
Astrea, Guja
Frosini, Silvia
Pasquariello, Rosa
Rubegni, Anna
Sgherri, Giada
Corsi, Martina
Bonuccelli, Alice
Battini, Roberta
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
title Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
title_full Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
title_fullStr Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
title_full_unstemmed Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
title_short Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
title_sort congenital myopathy as a phenotypic expression of cacna1s gene mutation: case report and systematic review of the literature
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379235/
https://www.ncbi.nlm.nih.gov/pubmed/37510268
http://dx.doi.org/10.3390/genes14071363
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