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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).