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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
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172