■先天性鱼鳞状红皮病(CIE)的特征是精细,在整个身体的红斑皮肤背景上发白的鳞片;据报道,它是由ABCA12,ALOX12B,ALOXE3、CERS3、CYP4F22、NIPAL4、PNPLA1和TGM1基因。
■一个15个月大的女孩出现与复合杂合ABCA12突变相关的CIE,一个已知的错义突变c.4139A>G(p。Asn1380Ser)来自她的父亲,和一个新的错义突变c.4300A>G(p。Thr1434Ala)来自她的母亲。
■这是第一份报告表明ABCA12的第一个ATP结合盒中的复合杂合错义突变可能有助于CIE的发作。
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.