Open AccessX‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations
Author(s) -
Zhang Min,
Huang Hailong,
Lin Na,
He Shuqiong,
An Gang,
Wang Yan,
Chen Meihuan,
Chen Lingji,
Lin Yuan,
Xu Liangpu
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23201
Subject(s) - ichthyosis , steroid sulfatase , pedigree chart , congenital ichthyosis , prenatal diagnosis , genetics , snp array , karyotype , biology , x chromosome , medicine , dermatology , chromosome , single nucleotide polymorphism , pregnancy , gene , fetus , endocrinology , steroid , hormone , genotype
Background X‐linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase ( STS ) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI. Methods In this study, chromosome karyotype analysis, bacterial artificial chromosomes‐on‐Beads™ (BoBs) assay, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP‐array) were employed for the prenatal diagnoses in three pregnant women with high‐risk serological screening results and a pregnant woman with mental retardation. Results STS deletion was identified at chromosome Xp22.31 in all four fetuses. Postnatal follow‐up confirmed the diagnosis of ichthyosis in two male fetuses and revealed normal dermatological manifestations in other two female fetuses carrying ichthyosis. Conclusion The results of the present study demonstrate that a combination of karyotypying, prenatal BoBs, FISH, and SNP‐array may avoid the missed detection of common microdeletions and ensure the accuracy of the detection results, which provides a feasible tool for the reliable etiological diagnosis and better genetic counseling of XLI.