GNE myopathy in India

Nalini, Atchayaram; Gayathri, Narayanappa; Nishino, Ichizo; Hayashi, Yukiko

doi:10.4103/0028-3886.117609

Cited by 30 publications

(18 citation statements)

References 22 publications

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“…A known “likely pathogenic” heterozygous missense variant (c.2179C>T (p.V727M)) (Supplementary Fig. S1; Supplementary Table S1) was identified in GNE (rs121908627; allele frequency of 0.0141) prevalent in South East Asian populations . Exome analysis did not identify a second variant resulting in no molecular diagnosis.…”

Section: Resultsmentioning

confidence: 96%

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

et al. 2019

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Introduction: UDP N‐acetylglucosamine2‐epimerase/N‐acetylmannosamine‐kinase (GNE) gene mutations can cause mostly autosomal‐recessive myopathy with juvenile‐onset known as hereditary inclusion‐body myopathy (HIBM). Methods: We describe a family of a patient showing an unusual HIBM with both vacuolar myopathy and myositis without quadriceps‐sparing, hindering diagnosis. We show how genetic testing with functional assays, clinical transcriptome sequencing (RNA‐seq) in particular, helped facilitate both the diagnosis and a better understanding of the genotype‐phenotype relationship. Results: We identified a novel 7.08 kb pathogenic deletion upstream of GNE using array comparative genomic hybridization (aCGH) and a common Val727Met variant. Using RNA‐seq, we found only monoallelic (Val727Met‐allele) expression, leading to ~50% GNE reduction in muscle. Importantly, α‐dystroglycan is hypoglycosylated in the patient muscle, suggesting HIBM could be a “dystroglycanopathy.” Conclusions: Our study shows the importance of considering aCGH for GNE‐myopathies, and the potential of RNA‐seq for faster, definitive molecular diagnosis of unusual myopathies. Muscle Nerve, 2019

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Section: Resultsmentioning

confidence: 96%

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

et al. 2019

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“…[86] p.A662V and p.V727M are a frequently found mutation in Southeast Asia. [878889] A potential founder mutation p.A409T was described in a cohort of GNE myopathy patients from the British Islands. [90]…”

Section: Gne (Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosaminementioning

confidence: 99%

Limb-girdle muscular dystrophies in India: A review

Khadilkar¹,

Faldu²,

Patil³

et al. 2017

Ann Indian Acad Neurol

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Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.

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“…To the best of our knowledge, this is the first report of occurrence of HIBM in Punjabi Sikh and Kashmiri Muslim ethnicity, though there are other large series described from Southern India. [ 19 20 ] These studies as well as our cases illustrate the clinical difficulties encountered while dealing with HIBM. Most of the times, the diagnosis is not made correctly owing to lack of awareness about the disease resulting in unnecessary diagnostic and therapeutic interventions.…”

Section: Discussionmentioning

confidence: 58%

Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature

Das

Goyal

Bhatkar

et al. 2016

Ann Indian Acad Neurol

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Background:Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of HIBM from four families in North India.Methods and Results:Seven patients from four different families were diagnosed to have HIBM. There was no consanguinity in any of the families. While one patient had two affected siblings, another had one affected siblings and the family history was noncontributory in two patients. Two of the siblings were available for examination and confirmed clinically to be suffering from HIBM. Among the seven patients, only one was still ambulatory at the time of diagnosis.Discussion:This is the first case report of occurrence of HIBM in North Indian population. Despite its unique clinical presentation, HIBM is frequently misdiagnosed resulting in unnecessary diagnostic and therapeutic interventions. A high index of suspicion of this rare myopathy along with proper clinical examination may go a long way in accurate prognostication and management of these patients.

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GNE myopathy in India

Abstract: These results show the presence of a common mutation in GNE gene in Southeast Asia.

Cited by 30 publications

References 22 publications

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

Limb-girdle muscular dystrophies in India: A review

Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature

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