A splice site mutation c.1251G&gt;A of <i>ISPD</i> gene is a common cause of congenital muscular dystrophy in Chinese patients

Song, Danyu; Fu, Xiaona; Lin, Ge; Chang, Xingzhi; Cui, Wei; Liu, Jieyu; Yang, Haiyuan; Qu, Suqing; Bao, Xinhua; Toda, Tatsushi; Wu, Xiru; Xiong, Hui

doi:10.1111/cge.13695

Cited by 6 publications

(4 citation statements)

References 5 publications

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“…Mutations in the CRPPA gene can produce a deficit of functioning α-dystroglycan and damaged muscle fibers, which impairs skeletal muscle development, structure, and function [ 26 ]. In addition to generating dystroglycanopathies, CRPPA mutations have also been linked to limb girdle muscular dystrophy, Walker–Warburg syndrome, and muscle–eye–brain disease [ 27 , 28 ]. When SOSTDC 1 is knocked down, it promotes the migration of linear morphea fibroblasts [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Integrating Genome-Wide Association Study with RNA-Sequencing Reveals HDAC9 as a Candidate Gene Influencing Loin Muscle Area in Beijing Black Pigs

Hou

Chen

Liu

et al. 2022

Biology

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Loin muscle area (LMA) is an important meat production trait and plays a key role in determining carcass leanness. Genome-wide association study (GWAS) and RNA sequencing (RNA-seq) analysis were used to identify candidate LMA genes in Beijing Black pigs, a popular breed among consumers in northern China. Ten single nucleotide polymorphisms (SNPs) in sus scrofa chromosome (SSC) 9 were significantly associated with LMA. These SNPs were mapped to a 2.90 Mb (84.94–87.84 Mb) region. A total of 11 annotated genes were mapped on this region, namely MEOX2, CRPPA, SOSTDC1, LRRC72, ANKMY2, BZW2, TSPAN13, AGR2, AHR, SNX13, and HDAC9. In addition, RNA-seq analysis was performed between the high- and low-LMA groups, and 329 differentially expressed genes (DEGs) were identified. Further, Kyoto Encyclopedia of Genes and Genomes analysis based on DEGs revealed that the JAK/STAT signaling pathway and oxytocin signaling pathway may be responsible for LMA. Both GWAS and RNA-seq analysis identified the HDAC9 gene, indicating that it may be an important candidate gene affecting LMA in Beijing Black pigs. The findings provide valuable molecular insights into the mechanisms that influence LMA content in pigs, which can be utilized in targeted approaches to enhance meat quality and commercial profitability.

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Section: Discussionmentioning

confidence: 99%

Integrating Genome-Wide Association Study with RNA-Sequencing Reveals HDAC9 as a Candidate Gene Influencing Loin Muscle Area in Beijing Black Pigs

Hou

Chen

Liu

et al. 2022

Biology

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“…Glycosylation is an essential post-translational modification and the abnormal glycosylation on α-dystroglycan would cause muscular dystrophy ( Kanagawa et al, 2016 ). Various missense mutations in ISPD were the main reason for muscular dystrophy due to its necessity on maintaining α-dystroglycan glycosylation ( Cirak et al, 2013 ; Song et al, 2020 ; Bayram et al, 2021 ). Very interestingly, in our study, the missense mutation of Arg84Lys in ISPD was carried by Dongtao chicken, while the Bearded ones had 3 genotypes of this allele, suggesting a positive evolution in gamecock chicken.…”

Section: Discussionmentioning

confidence: 99%

A missense mutation in ISPD contributes to maintain muscle fiber stability

Guo

Zhang

et al. 2022

Poultry Science

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“…The reported clinical phenotypes include intrauterine growth restriction, gastroschisis, Walker-Warburg syndrome, LGMDs, cobblestone lissencephaly, and congenital muscular dystrophy with developmental delay. For LGMDs due to ISPD mutations, onset occurs in late childhood, adolescence, or adulthood (8). The main clinical manifestations of LGMDs include proximal muscle involvement of the upper and lower extremities, elevated CK, gastrocnemius hypertrophy, and Gowers' sign (13).…”

Section: Discussionmentioning

confidence: 99%

Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration

et al. 2021

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ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our results confirm that the phenotype of limb-girdle muscular dystrophies can be easily misdiagnosed as Duchenne muscular dystrophy and that exon deletions of ISPD gene are relatively common. Moreover, low-dose prednisone therapy can improve patients' exercise ability and prolong survival and may be a promising new avenue for ISPD therapy.

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A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients

Abstract: The predicted synonymous mutation c.1251G>A of ISPD (NM_001101426.3) is a hot spot causing exon 9 skipping in five patients.

Cited by 6 publications

References 5 publications

Integrating Genome-Wide Association Study with RNA-Sequencing Reveals HDAC9 as a Candidate Gene Influencing Loin Muscle Area in Beijing Black Pigs

Integrating Genome-Wide Association Study with RNA-Sequencing Reveals HDAC9 as a Candidate Gene Influencing Loin Muscle Area in Beijing Black Pigs

A missense mutation in ISPD contributes to maintain muscle fiber stability

Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration

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