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Table 1 Mutation studies of 23 patients with MPS II

From: Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

Patient No. Mutation Consequence Location Phenotype Status Reference
P1 c.1265G > T p.C422F Exon 9 Intermediate novel -
P2 c.1265G > T p.C422F Exon 9 Intermediate novel -
P3 c.1265G > T p.C422F Exon 9 Intermediate novel -
P4 c.(1007 + 1_1008-1)_ (1180 + 1_1181-1)del EX8del (cDNA level) Exon 8 Severe for further characterization at genomic DNA level -
P5 c.326G > A p.W109* Exon 3 Intermediate published Brusius-Facchin et al., 2014 [20]
P6 none detected - - Severe - -
P7 c.1403G > A p.R468Q Exon 9 Severe published Whitley et al., 1993 [24]
P8 c.1403G > A p.R468Q Exon 9 Severe published Whitley et al., 1993 [24]
P9 c.326G > A p.W109* Exon 3 Severe published Brusius-Facchin et al., 2014 [20]
P10 c.1403G > A p.R468Q Exon 9 Severe published Whitley et al., 1993 [24]
P11 none detected - - Severe - -
P12 c.[626delT; 629A > G] p.L209Wfs*4 Exon 5 Severe novel -
P13 c.1402C > T p.R468W Exon 9 Severe published Crotty et al., 1992 [23]
P14 c.223C > T p.Q75* Exon 2 Severe published, de novo Kato et al., 2005 [25]
P15 c.1461_1462insN[710] - Exon 9 Severe novel, for further characterization -
P16 none detected - - Severe - -
P17 c.263G > A p.R88H Exon 3 Severe published Rathmann et al., 1996 [22]
P18 c.(254_257)delC p.P86Rfs*44 Exon 3 Severe novel -
P19 none detected - - Intermediate - -
P20 c.1226C > G p.T409R Exon 9 Attenuated novel -
P21 c.361C > T p.Q121* Exon 3 Severe novel, de novo -
P22 c.257C > T p.P86L Exon 3 Global developmental delay published, de novo Popowska et al., 1995 [21]
P23 c.514C > T p.R172* Exon 5 Severe published Flomen et al., 1992 [27]
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172