AI Article Synopsis
- - The study aimed to investigate the genetic cause of Nemaline myopathy in a 2-month-old girl who presented with symptoms like persistent phlegm and muscle tone reduction.
- - Whole exome sequencing revealed that the child carried two harmful variants of the NEB gene, inherited from her asymptomatic parents, confirming a diagnosis of rod-like myopathy.
- - The findings enhance understanding of the child's condition and provide important information for her family's genetic counseling and reproductive choices.
Article Abstract
Objective: To explore the genetic etiology of a child with Nemaline myopathy (NM).
Methods: A child who had visited Fujian Children's Hospital on January 28, 2023 due to "phlegm in the throat for more than a month" was selected as the study subject. Clinical data of the child was collected, in addition with peripheral blood samples from her and her parents. Following extraction of genomic DNA, trio-whole exome sequencing (WES) was carried out. Candidate variants was verified by Sanger sequencing and bioinformatic analysis. This study has been approved by the Medical Ethics Committee of Fujian Children's Hospital (Ethic No. 2023ETKLRK2004).
Results: The patient, a 2-month-old female, had presented with persistent phlegm in the throat, recurrent severe pneumonia, swallowing difficulty, and decreased muscle tone. WES results revealed that she has harbored compound heterozygous variants of the NEB (NM_001271208.1) gene, namely c.4611+2T>A and c.12961del (p.Ser4321ALafs*21), and the associated disease is rod-like myopathy. Sanger sequencing confirms that the variants were respectively inherited from her mother and father, both of whom had normal phenotypes. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PVS1_Moderate+PM2_Supporting+PM3; PVS1+PM2_Supporting).
Conclusion: The c.4611+2T>A/c.12961del (p.Ser4321ALafs*21) compound heterozygous variants of the NEB gene probably underlay the pathogenesis in this child. Above findings has facilitated the diagnosis, genetic counseling, and guidance for reproductive decision of her family.
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| http://dx.doi.org/10.3760/cma.j.cn511374-20240620-00343 | DOI Listing |
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Introduction: Structural variants (SVs) of the nebulin gene ( ), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in .
View Article and Find Full Text PDFBiallelic pathogenic variants in the nebulin ( ) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in . Previously, a mouse model of was developed; however, it presented an uncharacteristically severe phenotype with a near complete reduction in transcript expression that is not observed in exon 55 patients.
View Article and Find Full Text PDF[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].
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Article Synopsis
- - The study aimed to investigate the genetic cause of Nemaline myopathy in a 2-month-old girl who presented with symptoms like persistent phlegm and muscle tone reduction.
- - Whole exome sequencing revealed that the child carried two harmful variants of the NEB gene, inherited from her asymptomatic parents, confirming a diagnosis of rod-like myopathy.
- - The findings enhance understanding of the child's condition and provide important information for her family's genetic counseling and reproductive choices.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
HGG Adv
January 2025
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:
Biallelic pathogenic variants in the gene encoding nebulin (NEB) are a known cause of congenital myopathy. We present two brothers with congenital myopathy and compound heterozygous variants (NC_000002.12:g.
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