Table 5

Homozygous mutations detected in children with Wilson disease in this study

Mutation

Type of mutation

No. of patients

No. of chromosomes

Form of WD


c.507delA, p.Gly170fs*

deletion/frameshift

1

2

H (CLD)

c.1186G > T, p.Glu396X*

Nonsense

3

6

2 C (CLD)

N

c.330delA, p.Gln110fs*

deletion/frameshift

2

4

C (CLD)

c.1646T > C, p.Leu549Pro*

Missense

1

2

C (CLD)

c.1707+5G > A, IVS4+5G > A*1

Splice

2

4

2 C (CLD)

c.1924G > C, p.Asp642His

Missense

1

2

H (CLD)

c.2108G > A, p.Cys703Tyr

Missense

2

4

H (CLD)

H (ALF)

c.2304dupC, p.Met769fs

insertion/frameshift

1

2

A

c.2293G > A, p.Asp765Asn

Missense

1

2

H (CLD)

c.2532delA, p.Val845fs

deletion/frameshift

2

4

H (CLD)

c.2993G > A, p.Gly998Asp*

Missense

1

2

Combined

c.2930C > T, p.Thr977Met1

Missense

2

4

H (CLD)

c.2997dupC, p.Gly1000fs

insertion/frameshift

1

2

H (ALF)

c.3207C > A, p.His1069Glu

Missense

3

6

H (CLD)

c.3373_3377delAGTCAinsTCT, p.His1126fs*

deletion-insertion/frameshift

4

8

H (CLD)

c.3620A > G, p.His1207Arg1

Missense

1

2

A

c.3904-2A > G, IVS18-2A > G

Splice

4

8

H (ALF)

C (CLD)

H (CLD)

C (CLD)

c.3809A > G, p.Asn1270Ser

Missense

2

4

C (CLD

c.3818C > T, p.Pro1273Leu

Missense

3

6

H (CLD)

c.3731delT, p.Leu1244fs*

deletion/frameshift

1

2

H (ALF)

c.3994A > G, p.Asn1332Asp*

Missense

C (CLD)

c.3955C > T, p.Arg1319X

Nonsense

3

6

H (ALF) H (CLD)

c.4021G > C, p.Gly1341Arg*

Missense

2

4

H (CLD)

c.4022G > A, p.Gly1341Asp

Missense

1

2

H (CLD)

c.4301C > T, p.Thr1434Met

Missense

1

2

C (CLD)

c.4230G > A, p.Trp1410X*

Nonsense

1

2

H (CLD)

c.3734G > T, p.1245L

Missense

1

2

C (CLD)

c.3188C > T, p.Ala1063Val

Missense

1

2

N

H (CLD)

c.2049_2053delCCTGGinsTTTC, p.Val683_Leu684delinsVal

deletion-insertion/frameshift

1

2

H (ALF)

c.2332C > G, p.Arg778Gly

Missense

2

4

H (CLD)

c.2450delA, p.Glu817fs

deletion/frameshift

1

2

C (CLD)

IVS20+6T > C

Splice

1

2

C (CLD)

c.2231T > C, p.S744P

Missense

1

2

H (CLD)


1Suspected disease causing variants

(*): novel mutations detected in this study

*genbank sequences (NM_000053.2)

A: asymptomatic, H: hepatic, N, neurological, C: combined, AH: acute hepatitis, CLD: chronic liver disease. ALF: acute liver failure

Abdel Ghaffar et al. BMC Pediatrics 2011 11:56   doi:10.1186/1471-2431-11-56

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