Table 3 Molecular data of the four families with plasminogen deficiency.

From: The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease

Family

Relationship to proband

Plasminogen activity (%)*

PLG mutations

Major mutations involved in thrombotic risk†

Exon

Nucleotide change

Amino acid change

Genotype

MAF (%)

A

Proband

24

2

c.112 A>G

p.Lys38Glu

Compound het in trans

0.27

—

  

18

c.2134 G>A

p.Gly712Arg

 

0

—

Son

67

2

c.112 A>G

p.Lys38Glu

Het

0.27

—

Son

58

18

c.2134 G>A

p.Gly712Arg

Het

0

—

B

Proband

47

2

c.112 A>G

p.Lys38Glu

Het

0.27

—

Mother

67

2

c.112 A>G

p.Lys38Glu

Het

0.27

—

Daughter

50

2

c.112 A>G

p.Lys38Glu

Het

0.27

—

Sibling

58

2

c.112 A>G

p.Lys38Glu

Het

0.27

—

Sibling

82

Non-carrier

Non-carrier

Non-carrier

Non-carrier

 

—

C

Proband

68

7

c.781 C>T

p.Arg261Cys

Het

0

—

Sibling

64

7

c.781 C>T

p.Arg261Cys

Het

0

—

Mother

64

7

c.781 C>T

p.Arg261Cys

Het

0

—

Maternal aunt

101

Non-carrier

Non-carrier

Non-carrier

Non-carrier

0

—

D

Proband

55

1

c.12 G>A

p.Lys4Lys

Compound het

0

F12 (c.-4T>T)

—

c.1878-6 T>C

—

 

0.14

F13 (c.103 G>G)

  1. MAF: minor allele frequency from all populations of 1000 genomes data (April 2012 v.3; www.1000genomes.org)16; Het:: heterozygous.
  2. *Normal range of plasminogen activity: 72% to 127%.
  3. †Gene (nucleotide change).
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