scholarly journals Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A

2021 ◽  
Author(s):  
Afshin Khorrami ◽  
Pouya Goleij ◽  
Vahidreza Karamad ◽  
Elham Taheri ◽  
Behrouz Shadman ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Congenital Muscular Dystrophy ◽  
Compound Heterozygous ◽  
Heterozygous Missense Mutation

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy

1998 ◽  
Vol 12 (2) ◽  
pp. 135-135 ◽  
Author(s):  
Joshua T. Mendell ◽  
Shirly G. Panicker ◽  
Chang-Yong Tsao ◽  
Bo Feng ◽  
Zarife Sahenk ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Chain Gene ◽  
Compound Heterozygous

scholarly journals Novel LAMA2 variants identified in a patient with white matter abnormalities

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Keiko Yamamoto-Shimojima ◽  
Hiroaki Ono ◽  
Taichi Imaizumi ◽  
Toshiyuki Yamamoto
Keyword(s):  
Creatine Kinase ◽  
White Matter ◽  
Muscular Dystrophy ◽  
Developmental Delay ◽  
Congenital Muscular Dystrophy ◽  
Genomic Analysis ◽  
Compound Heterozygous ◽  
Loss Of Function ◽  
White Matter Abnormalities ◽  
Pathogenic Variants

AbstractComprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup, which consist of compound heterozygous involvement with predicted loss-of-function and splicing abnormalities.

scholarly journals Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

2020 ◽  
Vol 79 (12) ◽  
pp. 1257-1264
Author(s):  
Susan C Brown ◽  
Marta Fernandez-Fuente ◽  
Francesco Muntoni ◽  
John Vissing
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Early Death ◽  
Muscle Disease ◽  
Compound Heterozygous ◽  
Homozygous State ◽  
Multisystem Disease ◽  
Phenotypic Spectrum ◽  
Severe Mutation ◽  
Human And Mouse

Abstract Mutations in the fukutin-related protein gene, FKRP, are the most frequent single cause of α-dystroglycanopathy. Rare FKRP mutations are clinically not well characterized. Here, we review the phenotype associated with the rare c.919T>A mutation in FKRP in humans and mice. We describe clinical and paraclinical findings in 6 patients, 2 homozygous, and 4-compound heterozygous for c.919T>A, and compare findings with a mouse model we generated, which is homozygous for the same mutation. In patients, the mutation at the homozygous state is associated with a severe congenital muscular dystrophy phenotype invariably characterized by severe multisystem disease and early death. Compound heterozygous patients have a severe limb-girdle muscular dystrophy phenotype, loss of ambulation before age 20 and respiratory insufficiency. In contrast, mice homozygous for the same mutation show no symptoms or signs of muscle disease. Evidence therefore defines the FKRP c.919T>A as a very severe mutation in humans. The huge discrepancy between phenotypes in humans and mice suggests that differences in protein folding/processing exist between human and mouse Fkrp. This emphasizes the need for more detailed structural analyses of FKRP and shows the challenges of developing appropriate animal models of dystroglycanopathies that mimic the disease course in humans.

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

2012 ◽  
Vol 259 (12) ◽  
pp. 2590-2598 ◽  
Author(s):  
Lubov Blumkin ◽  
Sara Kivity ◽  
Dorit Lev ◽  
Sarit Cohen ◽  
Ruth Shomrat ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Large Deletion ◽  
Compound Heterozygous ◽  
Heterozygous Missense Mutation

scholarly journals Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-7
Author(s):  
Thi Kim Lien Nguyen ◽  
Van Dem Pham ◽  
Thu Huong Nguyen ◽  
Trung Kien Pham ◽  
Thi Quynh Huong Nguyen ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Missense Mutation ◽  
Mutational Analysis ◽  
Severe Disease ◽  
Congenital Nephrotic Syndrome ◽  
Compound Heterozygous ◽  
Recessive Trait ◽  
Heterozygous Missense Mutation ◽  
Nphs1 Gene ◽  
Heterozygous Variant

Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. Mutations in the NPHS1 gene, which encodes nephrin, are the main causes of congenital nephrotic syndrome in patients. In this study, we report the first mutational analysis of the NPHS1 gene in three unrelated children from three different Vietnamese families. These patients were examined and determined to be suffering from congenital nephrotic syndrome in the Department of Pediatrics, Vietnam National Hospital of Pediatrics. All 29 exons and exon-intron boundaries of NPHS1 were analyzed by PCR and DNA sequencing. Genetic analysis of the NPHS1 gene revealed one compound heterozygous variant p.Glu117Lys, one heterozygous missense mutation p.Asp310Asn, and one heterozygous frame-shifting mutation (c.3250_3251insG causing p.Val1084Glyfs⁎12) in patient 1. In patient 2, one heterozygous variant p.Glu117Lys and one novel heterozygous missense mutation p.Ser324Ala were identified. Finally, a novel missense mutation p.Arg802Leu and a novel nonsense mutation (c.2442C>G causing p.K792⁎) were identified in patient 3.

scholarly journals A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

2014 ◽  
Vol 24 (4) ◽  
pp. 312-320 ◽  
Author(s):  
Stephanie E. Wallace ◽  
Jessie H. Conta ◽  
Thomas L. Winder ◽  
Tobias Willer ◽  
Jamie M. Eskuri ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Congenital Muscular Dystrophy ◽  
Nonsense Mutations
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