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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 1Patient 2Patient 3
Gene mutationc.2254A > Tc.377G > Tc.362_363insG
proteinp.Arg752Stop,279p.Cys126Phep.Ala122GlyfsTer7
fatherwild typewild typewild type
motherwild typewild typewild type
Mutation styleHeterozygous, truncation mutationHeterozygous, missense mutationHeterozygous, frameshift mutation
ACMG degreePathogenicLikely pathogenicLikely pathogenic