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Table 2 Results obtained for positive controls included in NGS-LSD assay

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

CC GENE REF_SEC NT CHANGE AA CHANGE ZIG MD DIAGNOSIS OMIM
C1 ARSA NM_000487 c.1046delC p.P349fs HO + Metachromatic leukodystrophy 250100
C2 CLN3 NM_000086 c.461-280_677 + 382del966 p.[Gly154Alafs*29, Val155_Gly264del] HO + Ceroid lipofuscinosis, neuronal, 3 204200
C3 FUCA1 NM_000147 c.464C > T p.S155F HT - Fucosidosis 230000
  FUCA1 NM_000147 c.790C > T p.R264X HT -   
C4 GALNS NM_000512 c.281G > T p.R94L HO + Mucopolysaccharidosis type IVA 253000
C5 GLB1 NM_000404 c.1581G > A p.W527X HO + GM1 gangliosidosis 230500
C6 GNPTAB NM_024312 c.1208 T > C p.I403T HT + Mucolipidosis III alpha/beta 252600
  GNPTAB NM_024312 c.1999G > T p.E667X HT +   
C7 GUSB NM_000181 c.526C > T p.L176F HT + Mucopolysaccharidosis VII 253220
  GUSB NM_000181 c.530C > T p.T177I HT -   
C8 NAGLU NM_000263 c.900C > T p.R234C HT + Sanfilippo B 252920
C9 NEU1 NM_000434 c.700G > A p.D234N HT + Sialidosis 256550
  NEU1 NM_000434 c.1021C > T p.R341X HT +   
C10 SGSH NM_000199 c.120C > G p.Y40X HO + Sanfilippo A 252900
C11 SMPD1 NM_000543 c.739G > A p.G247S HO + Niemann-Pick disease, type A 257200
C12 TPP1 NM_000391 c. 622C > T p.R208X HO + Ceroid lipofuscinosis, neuronal, 1 256730
C13 CTSA NM_000308 c.448G > A p.V150M HT - Galactosialidosis 256540
  CTSA NM_000308 c.284delC p.P95Lfs HT -   
C14 NPC1 NM_000271 c.1552C > T p.R518W HT + Niemann-Pick disease, type C 257220
C15 NPC1 NM_000271 c.2594C > T p.S865L HT + Niemann-Pick disease, type C 257220
C16 SLC17A5 NM_012434 c.918 T > G p.Y306X HT + Sialic acid storage disorder,infantile 269920
  SLC17A5 NM_012434 c.500 T > C p.L167P HT -   
C17 ARSB NM_000046 c.427delG p.V143Sfs HO + Mucopolysaccharidosis VI 253200
C18 CLN3 NM_000086 c.461-280_677 + 382del966 p.[Gly154Alafs*29, Val155_Gly264del] HT + Ceroid lipofuscinosis, neuronal, 3 204200
  1. CC: Control Code (C1-C12 processed with SOLiD4 platform; C13-C18 processed with HiSeq2000); REF SEQ: reference sequence for which mutations are annotated; NT and AA CHANGE: nucleotide and amino acid change; ZIG: zigosity; HO: homozygotes; HT: heterozygotes; MD: Mutation description in Human Gene Mutation Database (+: previously associated with pathology; −: not previously associated).