Homozygous Nonsense Mutation in SDR9C7 in a Chinese Patient With Autosomal Recessive Congenital Ichthyosis
Introduction::Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of cornification disorders. To date, 14 genes have been found to be related to ARCI.Case presentation::A 23-year-old woman developed generalized erythroderma and scales over her trunk and limbs shortly after birth, followed by recurrent blisters and nail deformities. A diagnosis of ARCI was made based on her clinical manifestations, family history, and genetic analysis, which revealed a homozygous mutation in
SDR9C7 (c.187C>T, p.Q63X).
Discussion::Most genes responsible for ARCI are associated with epidermal lipid metabolism, which contributes to the cutaneous barrier.
SDR9C7, which encodes short-chain dehydrogenase/reductase family 9C member 7, has also been recently found to play vital roles in this process by regulating ceramide binding to the epidermal cornified cell envelope. For patients clinically suspected to have ARCI, recurrent onychomycosis is a strong indication that they carry a
SDR9C7 gene mutation.
Conclusion::Remarkable phenotypic and genotypic heterogeneity exists among patients with ARCI. Genetic analysis is an effective tool in diagnosing this and other hereditary diseases. Our patient developed recurrent onychomycosis, a typical presentation of ARCI caused by
SDR9C7 mutation, and the unusual blisters further expand the clinical phenotypic spectrum of ARCI.
autosomal recessive congenital ichthyosis、SDR9C7、onychomycosis、blisters
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This work was supported by grants from the National Natural Science Foundation of ChinaNos. 81730084 and 81903195;CAMS Innovation Fund for Medical SciencesCIFMS: 2021-1-I2M-018
2023-05-30（万方平台首次上网日期，不代表论文的发表时间）
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52-54
