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Table 4 Mutations for large molecule IEMs

From: Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Disease category

Disease

Gene

Reported mutations

Novel mutations

Founder Vs. Private

Type of mutation

LSD

Sphingolipidosis

Fabry

GLA

c. 782G > T (p.Gly261Val)

 

Founder

Homozygous, missense

Sandhoff disease

HEXB

 

c.1169 + 3_1169 + 10delAAGTTGTT (p.Gly65 AlafsX7)

Private

Deletion

Niemann-Pick disease type B

SMPD1

c.1267 C > T (p.His423Tyr)

 

Founder

Homozygous, missense

Niemann-Pick disease type C

NPC1

 

c.2130 + 1G > A;

Founder

Homozygous, intronic

 

c.2443_2444delp.ser815Leufs*54

Private

deletion

GM1 gangliosidosis

GLB1

 

c.950G > A(p. Trp317*)

Private

Homozygous, nonsense

c.171C > G (p.Tyr57X)

 

Founder

Homozygous, missense

Metachromatic leukodystrophy

ARSA

 

c.1108-2A > G

Private

Homozygous, intronic

Saposin B deficiency

PSAP

c.722G > C (p.Cys241Ser

 

Founder

Homozygous, missense

Krabbe disease

GALC

 

c.396G > A(p.Trp132*)

Private

Homozygous, nonsense

 

Mucopolysaccharidosis (MPS)

MPSI

IDUA

 

c.1868 T > C(p. Leu623Pro)

Private

Homozygous, missense

MPSII

IDS

 

c.405A > C(p. Lys135Asn)

Private

Homozygous, missense

MPSIIIA

SGSH

 

c.664-13C > G

Private

Homozygous, intronic

c.535G > A (p.Asp179Asn)

 

Private

Homozygous, missense

MPS IVA

GALNS

c.120 + 1G > C (IVS1 + 1G > C)

 

Private

Homozygous, missense

c.860C > T (p.Ser287Leu)

 

Private

Homozygous, missense

c.697G > A (p.Asp233Asn)

 

Private

Homozygous, missense

MPSVI

ARSB

c.753C > G (p.Tyr251*)

 

Founder

Homozygous, nonsense

c.430A > G (p.His393ARG)

 

Founder

Homozygous, missense

c.1079 T > C (p. Leu360Pro)

 

Private

Homozygous, missense

Oligosaccharidosis

Mucolipidosis II

GNPTAB

c.3503_3504 delTC (p.Phex1172)

 

Private

Homozygous, deletion

α-mannosidosis

MAN2B1

c.1340A > T (p.Asp447Val)

 

Private

Homozygous, missense

Others

NCL type 6

CLN6

 

c.794_796del(p.Ser265del)

Private

Homozygous, deletion

c.794_796delCCT

 

Private

Homozygous, deletion

  

NCL type 8

CLN8

Homozygous deletion encompassing exon2

 

Private

Homozygous, deletion

GSDII

GAA

 

c.1431delT(p. lle477fs)

Private

Homozygous, deletion

   

c.1657C > T(p. Gln553*)

Private

Homozygous nonsense

Glycogen storage disease

GSDIII

AGL

 

c.4353G > T(p. Trp1451Cys);

Private

Homozygous, missense

GSDIV

GBE1

 

c.998A > T (p.Glu 333 Val)

Private

Homozygous, missense

GSD IX

PHKG2

c.130C > T (p.Arg44*)

 

Founder

Homozygous nonsense

PHKB

 

Deletion Exon 5 and 6

Private

Homozygous, deletion

Mitochondrial disorders

Leigh disease

MTATP6

m.8993 T > G (p.Leu156Arg)

 

Private

Homoplasmic, missense

COX15

c.649C > T (p.Arg217Trp)

 

Private

Homozygous, missense

Pyruvate dehydrogenase deficiency

PDHA1

c.1256_1259dup (p.Trp421Serfs*6)

 

Private

Heterozygous Duplication

PDHA1

 

c.1132C > T (p.Arg378Cys)

Private

Hemizygous missense

Pyruvate Carboxylase Deficiency

PC

 

c.3116_3126del (p.Leu1039Glnfs*7)

Private

Deletion

 

Mitochondrial DNA depletion syndrome 3

DGUOK

c. 617G > A (p. R206k)

 

Private

Homozygous, missense

Mitochondrial DNA depletion syndrome 5

SUCLA2

 

c.362_363del (p.Ile121Serfs*38)

Private

Deletion

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

SCO2

c.2 T > C(p.Met1?)

 

Private

Homozygous, missense

3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like

SERAC1

c.438del (p.Thr147Argfs*22)

 

Private

Deletion

Primary CoenzymeQ10 deficiency type 5

COQ9

 

chr16_57485062C > T (p.His62Arg)

Private

Homozygous, missense

Peroxisomal disorders

Primary hyperoxaluria type 1

AGXT

c.187G > C (p.Gly63Arg)

 

Founder

Homozygous, missense

Zellweger syndrome

PEX5

c.1578 T > G (p.Asn526Lys)

 

Private

Homozygous, missense

Rhizomelic chondrodysplasia punctata type 1

PEX7

 

c.321_322delTA(p.Tyr107*)

Private

Homozygous, deletion

Congenital disorder of glycosylation (CDG)

CGD 1 L

ALG9

c.1075G > A (p.E359K)

 

Private

Homozygous, missense