Open AccessCongenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient
Author(s) -
Yang Zhou,
Qi Zhan,
Xu Zhe,
Li Wei,
Ma Lin
Publication year - 2020
Publication title -
pediatric investigation
Language(s) - English
Resource type - Journals
ISSN - 2574-2272
DOI - 10.1002/ped4.12182
Subject(s) - missense mutation , erythroderma , compound heterozygosity , genetics , mutation , medicine , dermatology , biology , gene
Congenital ichthyosiform erythroderma (CIE ) is characterized by fine, whitish scales on a background of erythematous skin over the whole body; it is reportedly caused by mutations in ABCA12 , ALOX12B , ALOXE3 , CERS3 , CYP4F22 , NIPAL4 , PNPLA1 , and TGM1 genes. Case presentation A 15‐month‐old girl presented with CIE associated with compound heterozygous ABCA12 mutations, a known missense mutation c.4139A>G (p.Asn1380Ser) from her father, and a novel missense mutation c.4300A>G (p.Thr1434Ala) from her mother. Conclusion This is the first report to indicate that compound heterozygous missense mutations in the first ATP‐binding cassette of ABCA12 could contribute to the onset of CIE.