Targeted next-generation sequencing determined a novel SGCG variant that is associated with limb-girdle muscular dystrophy type 2C: A case report

被引：2

作者：

Tran, Nam-Chung ^{[1
,2
,3
]}

Nguyen, Tuan Anh ^{[2
]}

Ta, Thanh Dat ^{[1
]}

Tran, Thinh Huy ^{[1
,2
]}

Nguyen, Phuoc-Dung ^{[1
]}

Vu, Chi Dung ^{[4
]}

Nguyen, Van-Hung ^{[2
]}

Bui, The-Hung ^{[1
,5
]}

Ta, Thanh Van ^{[1
,2
]}

Tran, Van Khanh ^{[1
,6
]}

机构：

[1] Hanoi Med Univ, Ctr Gene & Prot Res, Hanoi, Vietnam

[2] Hanoi Med Univ, Hanoi, Vietnam

[3] Vietnam Natl Univ, Univ Med & Pharm, Hanoi, Vietnam

[4] Vietnam Natl Childrens Hosp, Dept Med Genet Metab & Endocrinol, Hanoi, Vietnam

[5] Karolinska Inst, Karolinska Univ Hosp, Ctr Mol Med, Clin Genet Unit, Stockholm, Sweden

[6] Hanoi Med Univ, Ctr Gene & Prot Res, 1st Ton Tung St, Hanoi 10000, Vietnam

来源：

CLINICAL CASE REPORTS | 2023年 / 11卷 / 03期

关键词：

limb-girdle muscular dystrophy type 2C; sarcoglycanopathies; SGCG variant; targeted next-generation sequencing; MUSCLE; DIAGNOSIS;

D O I：

10.1002/ccr3.7025

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Limb-girdle muscular dystrophy-type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26-year-old male who had inactive walking due to proximal muscle weakness. Targeted next-generation sequencing found a novel variant c.412C > T (Q138*) in the SGCG gene.

引用

页数：6

共 18 条

[1] New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy [J].

Alonso-Perez, Jorge ;

Gonzalez-Quereda, Lidia ;

Bello, Luca ;

Guglieri, Michela ;

Straub, Volker ;

Gallano, Pia ;

Semplicini, Claudio ;

Pegoraro, Elena ;

Zangaro, Vittoria ;

Nascimento, Andres ;

Ortez, Carlos ;

Comi, Giacomo Pietro ;

ten Dam, Leroy ;

De Visser, Marianne ;

van der Kooi, A. J. ;

Garrido, Cristina ;

Santos, Manuela ;

Schara, Ulrike ;

Gangfuss, Andrea ;

Lokken, Nicoline ;

Storgaard, Glesper Helbo ;

Vissing, John ;

Schoser, Benedikt ;

Dekomien, Gabriele ;

Udd, Bjarne ;

Palmio, Johanna ;

D'Amico, Adele ;

Politano, Luisa ;

Nigro, Vincenzo ;

Bruno, Claudio ;

Panicucci, Chiara ;

Sarkozy, Anna ;

Abdel-Mannan, Omar ;

Alonsolimenez, Alicia ;

Claeys, Kristl G. ;

Gomez-Andres, David ;

Munell, Francina ;

Costa-Comellas, Laura ;

Haberlova, Jana ;

Rohlenova, Marie ;

Elke, De Vos ;

De Bleecker, Jan L. ;

Dominguez-Gonzalez, Cristina ;

Tasca, Giorgio ;

Weiss, Claudia ;

Deconinck, Nicolas ;

Fernandez-Torron, Roberto ;

de Munain, Adolfo Lopez ;

Camacho-Salas, Ana ;

Melegh, Bela .

BRAIN, 2020, 143 :2696-2708

[2]

Angelini Corrado, 2020, Acta Myol, V39, P207, DOI 10.36185/2532-1900-024

[3] The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon? [J].

Chu, Mary Lynn ;

Moran, Ellen .

NEUROTHERAPEUTICS, 2018, 15 (04) :849-862

[4] Molecular and genetic characterization of sarcospan:: insights into sarcoglycan-sarcospan interactions [J].

Crosbie, RH ;

Lim, LE ;

Moore, SA ;

Hirano, M ;

Hays, AP ;

Maybaum, SW ;

Collin, H ;

Dovico, SA ;

Stolle, CA ;

Fardeau, M ;

Tomé, FMS ;

Campbell, KP .

HUMAN MOLECULAR GENETICS, 2000, 9 (13) :2019-2027

[5] Carrier Frequency of the c.525delT Mutation in the SGCG Gene and Estimated Prevalence of Limb Girdle Muscular Dystrophy Type 2C Among the Moroccan Population [J].

El Kerch, Fatiha ;

Ratbi, Ilham ;

Sbiti, Aziza ;

Laarabi, Fatima-Zohra ;

Barkat, Amina ;

Sefiani, Abdelaziz .

GENETIC TESTING AND MOLECULAR BIOMARKERS, 2014, 18 (04) :253-256

[6] Microgravity and skeletal muscle [J].

Fitts, RH ;

Riley, DR ;

Widrick, JJ .

JOURNAL OF APPLIED PHYSIOLOGY, 2000, 89 (02) :823-839

[7]

Kirschner Janbernd, 2011, Handb Clin Neurol, V101, P41, DOI 10.1016/B978-0-08-045031-5.00003-7

[8] Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype? [J].

Klinge, Lars ;

Dekomien, Gabriele ;

Aboumousa, Ahmed ;

Charlton, Richard ;

Epplen, Joerg T. ;

Barresi, Rita ;

Bushby, Kate ;

Straub, Volker .

NEUROMUSCULAR DISORDERS, 2008, 18 (12) :934-941

[9] Prior resistance training and sex influence muscle responses to arm suspension [J].

Miles, MP ;

Heil, DP ;

Larson, KR ;

Conant, SB ;

Schneider, SM .

MEDICINE AND SCIENCE IN SPORTS AND EXERCISE, 2005, 37 (11) :1983-1989

[10] Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update [J].

Narasimhaiah, Deepti ;

Uppin, Megha S. ;

Ranganath, Prajnya .

INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY, 2022, 65 (05) :259-270

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