Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis: A case report and review of the literature

doi:10.12998/wjcc.v10.i28.10346

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World Journal of Clinical Cases

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

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World J Clin Cases. Oct 6, 2022; 10(28): 10346-10357
Published online Oct 6, 2022. doi: 10.12998/wjcc.v10.i28.10346

Table 6 Total exome sequencing results of gene mutations in the index patient (II-1) and her relatives

Patient	Gene	Chromosome location	Basic variation	Zygosity	Inheritance pattern
I-1	CYP4V2	chr4: 187122319	c.802-8_810delinsGC	HTZ	AR
I-2	CYP4V2	chr4: 187122319	c.802-8_810delinsGC	HTZ	AR
II-1	CYP4V2	chr4: 187122319	c.802-8_810delinsGC	HMZ	AR
II-1	DUOXA2	chr15: 45408785	c.413dupA	HTZ	AR
II-2	CYP4V2	chr4: 187122319	c.802-8_810delinsGC	HTZ	AR
II-3	CYP4V2	chr4: 187122319	c.802-8_810delinsGC	HMZ	AR
II-3	DUOXA2	chr15: 45408785	c.413dupA	HTZ	AR
II-5	CYP4V2	chr4: 187122319	c.802-8_810delinsGC	HTZ	AR
II-5	DUOXA2	chr15: 45408785	c.413dupA	HTZ	AR
II-6	CYP4V2	chr4: 187122319	c.802-8_810delinsGC	HMZ	AR

AR: Autosomal recessive; CYP4V2: Cytochrome P450 4V2; DUOXA2: Dual oxidase activator 2; HMZ: Homozygous; HTZ: Heterozygous.

Citation: Jiang JL, Qian JF, Xiao DH, Liu X, Zhu F, Wang J, Xing ZX, Xu DL, Xue Y, He YH. Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis: A case report and review of the literature. World J Clin Cases 2022; 10(28): 10346-10357
URL: https://www.wjgnet.com/2307-8960/full/v10/i28/10346.htm
DOI: https://dx.doi.org/10.12998/wjcc.v10.i28.10346