ArticleThe Journal of international medical research2020
Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis.
Article in The Journal of international medical research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- X-linked ichthyosis with seizures, ADHD, and autism spectrum disorder: a case report with an uncommon clinical presentation.Annals of medicine and surgery (2012) · 2026Article
- Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence.Clinical, cosmetic and investigational dermatology · 2026Review
- Review
- Sulfotransferase 2B1b, Sterol Sulfonation, and Disease.Pharmacological reviews · 2023Review
- Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.BMC medical genomics · 2023Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveRecessive X-linked ichthyosis (RXLI) caused by deficiency of the steroid sulfatase gene (
methodsThe patients were referred to the Family Planning Research Institute of Hunan Province for genetic counseling. Their skin phenotypes were photographed, and venous blood was drawn and used for chromosomal microarray analysis (CMA).
resultsThe skin phenotype of the proband from the first family was characterized by generalized skin dryness and scaling, with noticeable dark brown, polygonal scales on his trunk and extensor surfaces of his extremities. The proband from the second family had an atypical phenotype showing mild skin dryness over his entire body, slight scaling on his abdomen, and small skin fissures on his arms and legs. No mental disability or developmental anomaly was noted in either proband. CMA revealed that both probands carried a 1.4-Mb deletion on chromosome Xp22.31 involving four Online Mendelian Inheritance in Man-listed genes including
conclusionsOur findings add knowledge to the genotype and phenotype spectrum of RXLI, which may be helpful in genetic counseling and prenatal diagnosis.
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