Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption

12 December 2025 : Case report China

Unusual clinical course

Yuan He^{ABCDEF 1}, Liu Bai^{ABCDEF 1}, Junyou Li^{ABCDEFG 1*}

DOI: 10.12659/AJCR.948668

Am J Case Rep 2025; 26:e948668

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Table 2 SLC39A4 variant analysis (HGVS hg19).

HGVS cDNA	Exon	Protein change	Type	ACMG classification	Functional impact	Inheritance
c.522_523dup	3	p.Ala175Glyfs*46	Frameshift	Likely pathogenic	Premature termination at residue 184, truncating the zinc-binding domain	Maternal
c.925T>C	5	p.Cys309Arg	Missense	Uncertain significance	Disruption of disulfide bond (Cys309–Cys312)	Paternal
c.1782C>T	11	p.Pro594= (synonymous)	Synonymous	Uncertain significance	Potential splice modulation	Paternal
c.1843C>T	12	p.Arg615Trp	Missense	Uncertain significance	Impaired transmembrane domain function	Paternal
ACMG – American College of Medical Genetics and Genomics; cDNA – complementary DNA; HGVS – Human Genome Variation Society; – solute carrier family 39 member 4.

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