Table 4 Mutations identified in the GALNS gene of 17 Malaysian patients
Nucleotide change | Amino acid change | Exons/ IVS | Allele frequency, N = 34 (%) | Reference |
|---|---|---|---|---|
c.106_111delCTGCTC | p.(Leu36_Leu37del) | 1 | 4 (12%) | |
c.218A>G | p.(Tyr73Cys) | 2 | 1 (3%) | Lee, 2012 [17] |
c.235T>C | p.(Cys79Arg) | 2 | 2 (6%) | Bidchol, 2014 [40] |
c.346G>A | p.(Gly116Ser) | 4 | 1 (3%) | Tomatsu, 2004 [41] |
c.398A>C | p.(Tyr133Ser) | 4 | 1 (3%) | novel |
c.463G>A | p.(Gly155Arg) | 5 | 1 (3%) | Bunge, 1997 [42] |
c.473_477delAGTGG | p.(Glu158Valfs*12) | 5 | 2 (6%) | novel |
c.502G>T | p.(Gly168*) | 5 | 1 (3%) | novel |
c.503G>T | p.(Gly168Val) | 5 | 1 (3%) | novel |
c.512A>C | p.(Asp171Ala) | 5 | 1 (3%) | Sukegawa, 2000 [43] |
c.551G>A | p.(Trp184*) | 5 | 1 (3%) | novel |
c.647T>C | p.(Phe216Ser) | 7 | 3 (9%) | Morrone, 2014 [44] |
c.812T>C | p.(Leu271Pro) | 8 | 2 (6%) | novel |
c.950G>A | p.(Gly317Glu) | 9 | 1 (3%) | Caciotti, 2015 [45] |
c.953T>G | p.(Met318Arg) | 9 | 4 (12%) | Ogawa, 1995 [46] |
c.958G>A | p.(Glu320Lys) | 9 | 1 (3%) | novel |
c.1364+1G>A | Skipping of exon 12 | IVS 12 | 2 (6%) | Bunge, 1997 [42] |
c.1523T>C | p.(Leu508Pro) | 14 | 1 (3%) | novel |