A founder mutation in the GMPPB gene [c.1000G &gt; A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

Polavarapu, Kiran; Mathur, Anurag; Joshi, Aditi; Nashi, Saraswati; Preethish‐Kumar, Veeramani; Bardhan, Mainak; Sharma, Pooja; Parveen, Shaista; Seth, Malika; Vengalil, Seena; Chawla, Tanushree; Shingavi, Leena; Shamim, Uzma; Nayak, Sushmita; Vivekanand, A; Töpf, Ana; Roos, Andreas; Horvath, Rita; Lochmüller, Hanns; Nandeesh, Bevinahalli N; Arunachal, Gautham; Nalini, Atchayaram; Faruq, Mohammed

doi:10.1007/s10048-021-00658-1

Cited by 9 publications

(4 citation statements)

References 20 publications

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“…The following is a breakdown of the 32 analyzed, which have been evaluated by the grading system; LGMD R1 calpain3-related (R1(CAPN)) 9 [5][6][7][8][9][10][11][12][13], R2(DYSF) 11 [5,[11][12][13][14][15][16][17][18][19][20], R3-6(SGC) 4 [11,12,21,22], LGMD R7 telethonin-related (R7(TCAP)) 1 [23], LGMD R9 FKRP-related (R9(FKRP)) 4 [11,12,24,25], R12(ANO5) 5 [26][27][28][29][30], LGMD R14 POMT2-related (R14(POMT2)) 1 [31], LGMD R19 GMPPB-related (R19(GMPPB)) 3 [32][33][34], LGMD D3 HNRNPDL-related (D3(HNRNPDL)) 1 [35], LGMD D5 collagen 6-related and LGMD R22 collagen 6-related (D5/R12(COL6)) 1 [36].…”

Section: Study Selectionmentioning

confidence: 99%

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review

Morishima,

Schoser

2023

Muscles

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Skeletal muscle MRI studies in limb-girdle muscular dystrophy (LGMD) have increased over the past decades, improving the utility of MRI as a differential diagnostic tool. Nevertheless, the relative rarity of individual genotypes limits the scope of what each study can address, making it challenging to obtain a comprehensive overview of the MRI image of this splintered group. Furthermore, MRI studies have varied in their methods for assessing fat infiltration, which is essential in skeletal muscle MRI evaluation. It stayed problematic and impeded attempts to integrate multiple studies to cover the core MRI features of a distinct LGMD. In this study, we conducted a systematic review of LGMD in adults published until April 2023; 935 references were screened in PubMed and EMBASE, searches of the gray literature, and additional records were added during the screening process. Finally, 39 studies were included in our final analysis. We attempted to quantitatively synthesize the MRI data sets from the 39 individual studies. Finally, we illustrated ideal and simple MRI muscle involvement patterns of six representative LGMD genotypes. Our summary synthesis reveals a distinct distribution pattern of affected muscles by LGMD genotypes, which may be helpful for a quick first-tier differential diagnosis guiding genetic diagnostics.

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Section: Study Selectionmentioning

confidence: 99%

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review

Morishima,

Schoser

2023

Muscles

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“…Then, after univariate Cox regression analysis, LASSO regression analysis, and multivariate Cox regression analysis, a six-gene risk score was established, including GMPPB, HPDL, PRSS16, SPTSSB, SRPK1 and STC1. GDP-mannose pyrophosphorylase B (GMPPB) gene encodes beta subunit of an enzyme which catalyses the formation of GDP-mannose required in the glycosylation of α-dystroglycan [30] . It had been reported to affect this glycosylation process [31] .…”

Section: Discussionmentioning

confidence: 99%

Comprehensive analysis for the immune related biomarkers of platinum-based chemotherapy in ovarian cancer

Liu,

Yang

et al. 2023

Translational Oncology

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“…In the 35 causative genes for CMS, pathogenic variants have been frequently observed in genes for AChR ε subunit ( CHRNE ), collagen Q ( COLQ ), rapsyn ( RAPSN ), Dok-7 ( DOK7 ), and glutamine--fructose-6-phosphate transaminase 1 ( GFPT1 ). Founder effects have been reported in RAPSN p.Asn88Lys [ 46 , 47 , 48 , 49 ], DOK7 c.1124_1127dupTGCC [ 50 ], CHRNE c.1327delG [ 51 ], GMPPB c.1000G>A (p.Asp334Asn) [ 52 ], and PLEC c.1_9del (p.Met1_Gly3del) [ 53 ].…”

Section: Electrophysiology Muscle Biopsy Laboratory Examinations Diff...mentioning

confidence: 99%

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

Ohno

Ohkawara

Shen

et al. 2023

IJMS

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Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1). The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. Measurement of compound muscle action potentials elicited by repetitive nerve stimulation is required to diagnose CMS. Clinical and electrophysiological features are not sufficient to identify a defective molecule, and genetic studies are always required for accurate diagnosis. From a pharmacological point of view, cholinesterase inhibitors are effective in most groups of CMS, but are contraindicated in some groups of CMS. Similarly, ephedrine, salbutamol (albuterol), amifampridine are effective in most but not all groups of CMS. This review extensively covers pathomechanical and clinical features of CMS by citing 442 relevant articles.

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A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

Cited by 9 publications

References 20 publications

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review

A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review

Comprehensive analysis for the immune related biomarkers of platinum-based chemotherapy in ovarian cancer

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

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