Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Jun 2022
Historique:
received: 21 12 2021
accepted: 30 03 2022
entrez: 16 11 2022
pubmed: 17 11 2022
medline: 17 11 2022
Statut: epublish

Résumé

Genetic testing has become an integral part of health care, allowing the confirmation of thousands of hereditary diseases, including neuromuscular disorders (NMDs). The reported average prevalence of individual inherited NMDs is 3.7-4.99 per 10,000. This number varies greatly in the selected populations after applying population-wide studies. The aim of this study was to evaluate the effect of genetic analysis as the first-tier test in patients with NMD and to calculate the disease prevalence and allelic frequencies for reoccurring genetic variants. Patients with NMD from Latvia with molecular tests confirming their diagnosis in 2008-2020 were included in this retrospective study. Diagnosis was confirmed in 153 unique cases of all persons tested. Next-generation sequencing resulted in a detection rate of 37%. Two of the most common childhood-onset NMDs in our population were spinal muscular atrophy and dystrophinopathies, with a birth prevalence of 1.01 per 10,000 newborns and 2.08 per 10,000 (male newborn population), respectively. The calculated point prevalence was 0.079 per 10,000 for facioscapulohumeral muscular dystrophy type 1, 0.078 per 10,000 for limb-girdle muscular dystrophy, 0.073 per 10,000 for nondystrophic congenital myotonia, 0.052 per 10,000 for spinobulbar muscular atrophy, and 0.047 per 10,000 for type 1 myotonic dystrophy. DNA diagnostics is a successful approach. The carrier frequencies of the common

Sections du résumé

Background and Objectives UNASSIGNED
Genetic testing has become an integral part of health care, allowing the confirmation of thousands of hereditary diseases, including neuromuscular disorders (NMDs). The reported average prevalence of individual inherited NMDs is 3.7-4.99 per 10,000. This number varies greatly in the selected populations after applying population-wide studies. The aim of this study was to evaluate the effect of genetic analysis as the first-tier test in patients with NMD and to calculate the disease prevalence and allelic frequencies for reoccurring genetic variants.
Methods UNASSIGNED
Patients with NMD from Latvia with molecular tests confirming their diagnosis in 2008-2020 were included in this retrospective study.
Results UNASSIGNED
Diagnosis was confirmed in 153 unique cases of all persons tested. Next-generation sequencing resulted in a detection rate of 37%. Two of the most common childhood-onset NMDs in our population were spinal muscular atrophy and dystrophinopathies, with a birth prevalence of 1.01 per 10,000 newborns and 2.08 per 10,000 (male newborn population), respectively. The calculated point prevalence was 0.079 per 10,000 for facioscapulohumeral muscular dystrophy type 1, 0.078 per 10,000 for limb-girdle muscular dystrophy, 0.073 per 10,000 for nondystrophic congenital myotonia, 0.052 per 10,000 for spinobulbar muscular atrophy, and 0.047 per 10,000 for type 1 myotonic dystrophy.
Discussion UNASSIGNED
DNA diagnostics is a successful approach. The carrier frequencies of the common

Identifiants

DOI: 10.1212/NXG.0000000000000685 PMID: 36381256 PMC: PMC9641966
pubmed: 36381256
doi: 10.1212/NXG.0000000000000685
pii: NG2021017316
pmc: PMC9641966
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e685

Informations de copyright

Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Baiba Lace (B)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
ORCID: 0000-0001-5371-6756

Ieva Micule (I)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Viktorija Kenina (V)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Signe Setlere (S)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Jurgis Strautmanis (J)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Inese Kazaine (I)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Gita Taurina (G)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Daiga Murmane (D)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Ieva Grinfelde (I)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Liene Kornejeva (L)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Zita Krumina (Z)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Olga Sterna (O)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Ilze Radovica-Spalvina (I)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Inta Vasiljeva (I)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Linda Gailite (L)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Janis Stavusis (J)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Diana Livcane (D)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Dita Kidere (D)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Ieva Malniece (I)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Inna Inashkina (I)

Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.

Classifications MeSH