Skip to main content

Table 2 Genetic variants detected in the patients

From: The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Mutant gene Transcript ID Family ID Variant (Paternal) Variant (Maternal) Variant (De novo)
DYSF NM_003494 Family 3 c.863A > T (p.D288V) in homozygous state  
Family 5 c.799_800delTT (p.F267Lfs*5) c.680 T > C (p.I227T) /
c.714G > T (p.K238N)
Family 6 c.5975delT (p.V1992Efs*20) c.5909C > T (p.P1970L)  
Family 8 c.1375dupA (p.M459Nfs*15) c.4200delC (p.I1401Sfs*47)  
Family 13 c.3988C > T (p.Q1330*) c.1667 T > C (p.L556P)  
Family 14 c.1555G > A (p.G519R) c.5357G > A (p.W1786*)  
Family 16 c.799_800delTT (p.F267Lfs*5) c.3550C > T (p.Q1184*)  
CAPN3 NM_000070 Family 1 c.1971_1973del (p.F658del) in homozygous stateb  
Family 2 c.439C > T (p.R147*) c.468C > A (p.I156=) a  
Family 9 c.1795dupA (p.T599Nfs*33) c.2050 + 1G > A  
Family 24 c.382G > T (p.D128Y) c.753delC (p.I251Ifs*2)  
LMNA NM_170707 Family 18    c.1336G > T (p.D446Y)
Family 19    c.1357C > T (p.R453W)
Family 20    c.431A > C (p.K144T)
SGCG NM_000231 Family 4 c.768delC (p.S257Afs*23) in homozygous state  
Family 7 c.702 + 1G > A in homozygous state  
Family 22   c.756G > A (p.W252*) c.477delG (p.V160Lfs*8)
SGCA NM_000023 Family 10 c.292C > T (p.R98C) c.892delC (p.L298Cfs*23)  
Family 15 c.262delT (p.F88Sfs*123) c.409G > A (p.E137K)  
SGCD NM_000337 Family 17 c.503-2A > G in homozygous state  
Family 23 c.414delA (p.K138Nfs*4) in homozygous state  
FKRP NM_001039885 Family 11 c.948delC (p.C317Afs*111) c.545A > G (p.Y182C)  
Family 21 compound heterozygous variant [c.151G > T (p.V51F), c.545A > G (p.Y182C)]c  
TTN NM_001267550 Family 12 c.25006 T > C (p.C8336R) c.33938dupC (p.E11314Rfs*24)  
  1. Bold variants are novel; the symbol * means the occurence of premature temination codon; the pathogenicity of varianta is uncertain
  2. Homozygous variantb was found in proband, and the proband’s mother was a carrier. But proband’s late father was undetermined
  3. Compound heterozygous variantc was found in proband, and the proband’s daughter was a carrier (c.545A > G). But proband’s parents refused to receive a genetic testing