Skip to main content

Table 3 Mutant allele frequency in multiplex target next-generation sequencing

From: A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Subject

Gene

Mutation

Mutant allele

Total allele

%

Patient 1a

AKT3

p.(N229S)

43

78

55.1

Patient 2

PIK3R2

p.(G373R)

847

1828

46.3

Patient 3

PIK3R2

p.(G373R)

343

689

47.8

Patient 4

PTEN

p.(Q214*)

1497

2922

51.2

Patient 5

PTEN

p.(L247S)

238

500

47.6

Patient 6

PTEN

p.(Y336*)

96

214

44.9

  1. aThe mutation, which had previously been identified by WES, was reconfirmed by target next-generation sequencing
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us