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Table 2 The CDKL5 mutations in the three girls

From: Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders

 

Patient 1

Patient 2

Patient 3

Gene mutation

c.2254A > T

c.377G > T

c.362_363insG

protein

p.Arg752Stop,279

p.Cys126Phe

p.Ala122GlyfsTer7

father

wild type

wild type

wild type

mother

wild type

wild type

wild type

Mutation style

Heterozygous, truncation mutation

Heterozygous, missense mutation

Heterozygous, frameshift mutation

ACMG degree

Pathogenic

Likely pathogenic

Likely pathogenic