Wilson disease with hepatic presentation in an eight-month-old boy

doi:10.3748/wjg.v21.i29.8981

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Aug 7, 2015; 21(29): 8981-8984
Published online Aug 7, 2015. doi: 10.3748/wjg.v21.i29.8981

Table 2 ATP7B gene sequencing results

Exons	Heterozygous mutation/allel(parental origin)	SNP number	Status on WD mutation database	Mutation taster prediction (score)
Exon2	c.1216T>G, p.S406A (ND)	rs1801243	Non disease causing	Polymorphism (99)
Exon3	c.1366G>C, p.V456L (ND)	rs1801244	Not found	Polymorphism (32)
Exon10	c.2495A>G, p.K832R (ND)	rs1061472	Non disease causing	Polymorphism (26)
Exon11	c.2621C>T, p.A874V (Mother)	rs121907994/CM980173	Disease causing	disease causing (64)
Exon12	c.2855G>A, p.R952K (ND)	rs732774	Not found	Polymorphism (26)
Exon16	c.3419T>C, p.V1140A (ND)	rs1801249	Not found	Polymorphism (64)
Exon18	c.3809A>G, p.N1270S (Father)	rs121907990/CM994116, CM930060	Disease causing	disease causing (46)
Intron	c.3903+6C>T (Mother)	rs2282057	Not found	Polymorphism

Wilson Disease Mutation Database (http://www.wilsondisease.med.ualberta.ca/database.asp); Mutation Taster (http://www.mutationtaster.org); ND: Parental sequencing not done.

Citation: Abuduxikuer K, Li LT, Qiu YL, Wang NL, Wang JS. Wilson disease with hepatic presentation in an eight-month-old boy. World J Gastroenterol 2015; 21(29): 8981-8984
URL: https://www.wjgnet.com/1007-9327/full/v21/i29/8981.htm
DOI: https://dx.doi.org/10.3748/wjg.v21.i29.8981