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Table 5 Results found for patients remaining un-diagnosed

From: Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

PC IS Gene Ref sec Coding variants* dbSNP ID MAF Zig MD BA
P27 High MANBA NM_005908 c.1922G > A p.R641H --   HT + NegΨ
P28 High HYAL1 NM_033159 c.676C > T p.R226C --   HT - NCI
   HEXB NM_000521 c.383 T > G p.L128R --   HT - NegΨ
P29 High SMPD1 NM_000543 c.1460C > T p.A487V --   HT + NegΨ
P30 Low NEU1 NM_000434 c.1070G > A p.R357Q --   HT - NCI
P31 Mod MFSD8 NM_152778 c.50C > G p.T17R --   HT - NCI
P32 Low NAGA NM_000262 c.697G > A p.V233M --   HT - NCI
   NPC1 NM_000271 c.665A > G p.N222S rs1805081 0.001 HT + NCI
P33 Low SMPD1 NM_000543 c.1550A > T p.E517V --   HT + NCI
P34 High SGSH NM_000199 c.308A > G p.K103R --   HT - NCI
   CLN6 NM_017882 c.755G > C p.R252P --   HT - NCI
P35 Low TPP1 NM_000391 c.1117C > G p.Q373E --   HT - NCI
   GAA NM_000152 c.1367G > T p.R456M --   HT - NCI
P36 High CLN5 NM_006493 c.606G > A p.M202I --   HT - NCI
P37 High SMPD1 NM_000543 c.8G > A p.R3H --   HT - NCI
P38 Low IDUA NM_000203 c.251G > C p.G84A --   HT - NCI
P39 Low IDS NM_000202 c.754G > A p.D252N --   HO + Neg*
P40 Low CLN3 NM_000086 c.995C > T p.A332V --   HT - NA
P41 High CLN5 NM_006493 c.726C > A p.N242K --   HT - NA
P42 High IDUA NM_000203 c.650G > A p.R217Q --   HT - NCI
   NPC1 NM_000271 c.2257G > A p.V753M --   HT - NCI
P43 Mod ASAH1 NM_177924 c.2 T > C p.M1T --   HT - NCI
P44 Low SMPD1 NM_000543 c.1460C > T p.A487V --   HT + NCI
P45 Low CLN3 NM_000086 c.995C > T p.A332V --   HT - NA
P46 Low CLN5 NM_006493 c.606G > A p.M202I --   HT - NA
   GALNS NM_000512 c.1127G > A p.R376Q --   HT + NCI
P47 Low GNPTG NM_032520 c.857C > T p.T286M --   HT + NCI
   NPC1 NM_000271 c.3535A > G p.M1179V rs61731969 0.002 HT - NCI
P48 Low MAN2B1 NM_000528 c.844C > T p.P282S rs45576136 0.003 HT - NCI
  1. Notes and abbreviations: Samples from P27-39 were processed using SOLiD4; those from P40-P48 using HiSeq2000; P49-P66 no mutation was found. PC: Patient Code; IS: Index of LSD Suspicion (Mod: moderate); *detected with frequency ≤0.01 in 1000 g2012 database; MAF: minor allele frequency; Zig: zygosity; HO: homozygote; HT: heterozygote; MD: Mutation description in Human Gene Mutation Database (+: previously associated with pathology; −: not previously associated); BA: Biochemical assay (+: positive; NA: test not available; Neg: negative; NCI: not clinically indicated; Ψ Enzimatic assay; *GAGs).