Linkage of Hereditary Distal Myopathy with Desmin Accumulation to 2q

Saavedra-Matiz, Carlos A.; Chapman, Nicola H.; Wijsman, Ellen M.; Horowitz, Steven H.; Rosen, David I.

doi:10.1159/000022908

Cited by 11 publications

(4 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We found 39 publications (and one corrigendum) describing DES mutation carriers (2, 3, 12–15, 17, 19, 21, 23, 38, 45, 46, 50–76), including two publications containing additional clinical details of patients. In total, 195 DES mutation carriers were described.…”

Section: Resultsmentioning

confidence: 99%

Desmin-related myopathy

Spaendonck‐Zwarts¹,

Hessem²,

Jongbloed³

et al. 2010

Clinical Genetics

190

176

View full text Add to dashboard Cite

Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We provide (i) a literature review on DRM, including clinical manifestations, inheritance, molecular genetics, myopathology and management and (ii) a meta-analysis of reported DES mutation carriers, focusing on their clinical characteristics and potential genotype-phenotype correlations. Meta-analysis: DES mutation carriers (n = 159) with 40 different mutations were included. Neurological signs were present in 74% and cardiological signs in 74% of carriers (both neurological and cardiological signs in 49%, isolated neurological signs in 22%, and isolated cardiological signs in 22%). More than 70% of carriers exhibited myopathy or muscular weakness, with normal creatine kinase levels present in one third of them. Up to 50% of carriers had cardiomyopathy and around 60% had cardiac conduction disease or arrhythmias, with atrioventricular block as an important hallmark. Symptoms generally started during the 30s; a quarter of carriers died at a mean age of 49 years. Sudden cardiac death occurred in two patients with a pacemaker, suggesting a ventricular tachyarrhythmia as cause of death. The majority of DES mutations were missense mutations, mostly located in the 2B domain. Mutations in the 2B domain were predominant in patients with an isolated neurological phenotype, whereas head and tail domain mutations were predominant in patients with an isolated cardiological phenotype.

show abstract

Section: Resultsmentioning

confidence: 99%

Desmin-related myopathy

Spaendonck‐Zwarts¹,

Hessem²,

Jongbloed³

et al. 2010

Clinical Genetics

190

176

View full text Add to dashboard Cite

show abstract

“…Indeed, such mutations in the desmin gene had earlier 81 and several times afterwards been identified, 34, 149, 150, 177, 184 with an update recently published. 78 This heuristic principle—from the morphological identification of a protein to its mutational analysis—has repeatedly been shown in series of papers concerning the same family 91, 161, 177 or the same patient. 9, 65, 139, 150…”

Section: Congenital Myopathies With Mutant Proteinsmentioning

confidence: 90%

Congenital myopathies at their molecular dawning

Goebel

2003

Muscle and Nerve

View full text Add to dashboard Cite

The introduction and application of molecular techniques have commenced to influence and alter the nosology of congenital myopathies. Long-known entities such as nemaline myopathies, core diseases, and desmin-related myopathies have now been found to be caused by unequivocal mutations. Several of these mutations and their genes have been identified by analyzing aggregates of proteins within muscle fibers as a morphological hallmark as in desminopathy and actinopathy, the latter a subtype among the nemaline myopathies. Immunohistochemistry has played a crucial role in recognizing this new group of protein aggregate myopathies within the spectrum of congenital myopathies. It is to be expected that other congenital myopathies marked by inclusion bodies may turn out to be such protein aggregate myopathies, depending on analysis of individual proteins within these protein aggregates and their association with putative gene mutations.

show abstract

“…There are mainly five different HIBMs, such as HIBM1, HIBM2, HIBM-PFD, HIBM-ERF, and HIBM3. Numerous studies have been performed and a few causal mutations had been reported (Nonaka et al, 1981 ; Horowitz and Schmalbruch, 1994 ; Darin et al, 1998 ; Goldfarb et al, 1998 ; Martinsson et al, 1999 , 2000 ; Saavedra-Matiz et al, 2000 ; Nishino et al, 2002 ). Besides, our previous study described a new subtype of HIBM named as HIBM4.…”

Section: Discussionmentioning

confidence: 99%

Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis

Lü

Zhang

et al. 2018

Front. Neurosci.

View full text Add to dashboard Cite

Hereditary Inclusion Body Myopathy (HIBM) is a rare autosomal dominant or recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant or recessive and occurs in adulthood. Our previous study reported a new subtype of HIBM linked to the susceptibility locus at 7q22.1-31.1. The present study is aimed to identify the candidate gene responsible for the phenotype in HIBM pedigree. After multipoint linkage analysis, we performed targeted capture sequencing on 16 members and whole-exome sequencing (WES) on 5 members. Bioinformatics filtering was performed to prioritize the candidate pathogenic gene variants, which were further genotyped by Sanger sequencing. Our results showed that the highest peak of LOD score (4.70) was on chromosome 7q22.1-31.1.We identified 2 and 22 candidates using targeted capture sequencing and WES respectively, only one of which as CFTRc.1666A>G mutation was well cosegregated with the HIBM phenotype. Using transcriptome analysis, we did not detect the differences of CFTR's mRNA expression in the proband compared with healthy members. Due to low incidence of HIBM and there is no other pedigree to assess, mutation was detected in three patients with duchenne muscular dystrophyn (DMD) and five patients with limb-girdle muscular dystrophy (LGMD). And we found that the frequency of mutation detected in DMD and LGMD patients was higher than that of being expected in normal population. We suggested that the CFTRc.1666A>G may be a candidate marker which has strong genetic linkage with the causative gene in the HIBM family.

show abstract

Linkage of Hereditary Distal Myopathy with Desmin Accumulation to 2q

Cited by 11 publications

References 18 publications

Desmin-related myopathy

Desmin-related myopathy

Congenital myopathies at their molecular dawning

Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis

Contact Info

Product

Resources

About