Table 3 Identification the large-scale deletion/duplication of PAH
From: Identification of phenylketonuria patient genotypes using single-gene full-length sequencing
Patient | Age | Pre-treatment Phe levels (μmol/L) | PAH allele 1 | PAH allele 2 | |
|---|---|---|---|---|---|
MLPA result | Full-length sequencing result (involved exon and intron) | ||||
38 | 1 m | 2,254.80 | exon4-5 deletion | NC_000012.11: g.103256126–103,272,397 del (exon4-5) | c.1162G > A(p.Val388Met) |
39 | 1m3d | 2484 | exon6 deletion | NC_000012.11: g.103248768–103,249,219 del (exon6) | c.478C > T(p.Gln160Ter) |
40 | 1y9m | 1428 | exon1 and upstream deletion | NC_000012.11: g.103311316-103315071del (exon1 and upstream) | c.1238G > C(p.Arg413Pro) |
41 | 2m12d | 768 | exon1 and upstream deletion | NC_000012.11: g.103311023–103,312,086 del (exon1 and upstream) | c.158G > A(p.Arg53His) |
42 | 1y | 528 | exon12 duplication | NC_000012.11:g.103233943_103235490dup (exon12) | c.721C>T(p.Arg241Cys) |