دورية أكاديمية
Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients.
| العنوان: | Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients. |
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| المؤلفون: | Tran VK; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam., Nguyen NL; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Tran LNT; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam., Le PT; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam., Tran AH; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam., Pham TLA; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam., Lien NTK; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Xuan NT; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Thanh LT; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Ta TV; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.; Hanoi Medical University Hospital, Hanoi Medical University, Hanoi, Vietnam., Tran TH; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.; Hanoi Medical University Hospital, Hanoi Medical University, Hanoi, Vietnam., Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam. |
| المصدر: | Frontiers in genetics [Front Genet] 2023 Jun 14; Vol. 14, pp. 1183663. Date of Electronic Publication: 2023 Jun 14 (Print Publication: 2023). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Research Foundation. |
| مستخلص: | Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy ( LAMA2 -MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene. In MDC1A, laminin- α2 chain expression is absent or significantly reduced, leading to some early-onset clinical symptoms including severe hypotonia, muscle weakness, skeletal deformity, non-ambulation, and respiratory insufficiency. Methods: Six patients from five unrelated Vietnamese families presenting with congenital muscular dystrophy were investigated. Targeted sequencing was performed in the five probands. Sanger sequencing was carried out in their families. Multiplex ligation-dependent probe amplification was performed in one family to examine an exon deletion. Results: Seven variants of the LAMA2 (NM_000426) gene were identified and classified as pathogenic/likely pathogenic variants using American College of Medical Genetics and Genomics criteria. Two of these variants were not reported in the literature, including c.7156-5_7157delinsT and c.8974_8975insTGAT. Sanger sequencing indicated their parents as carriers. The mothers of family 4 and family 5 were pregnant and a prenatal testing was performed. The results showed that the fetus of the family 4 only carries c.4717 + 5G>A in the heterozygous form, while the fetus of the family 5 carries compound heterozygous variants, including a deletion of exon 3 and c.4644C>A. Conclusion: Our findings not only identified the underlying genetic etiology for the patients, but also provided genetic counseling for the parents whenever they have an offspring. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Tran, Nguyen, Tran, Le, Tran, Pham, Lien, Xuan, Thanh, Ta, Tran and Nguyen.) |
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| فهرسة مساهمة: | Keywords: LAMA2 gene; MDC1A; Vietnamese; congenital muscular dystrophy; merosin-deficient congenital muscular dystrophy type 1A |
| تواريخ الأحداث: | Date Created: 20230630 Latest Revision: 20230703 |
| رمز التحديث: | 20230703 |
| مُعرف محوري في PubMed: | PMC10301838 |
| DOI: | 10.3389/fgene.2023.1183663 |
| PMID: | 37388928 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1664-8021 |
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| DOI: | 10.3389/fgene.2023.1183663 |