China Journal of Leprosy and Skin Diseases ›› 2023, Vol. 39 ›› Issue (10): 719-724.doi: 10.12144/zgmfskin202310719

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Genotype-phenotype analysis of cases with X-linked ichthyosis

LU Peng1, CHEN Gang1, CUI Mengxing2, YANG Yifei3, LIANG Ao3, HUANG Hequn1, LIANG Bo1   

  1. 1 Department of Dermatology and Venereology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; 2 Department of Clinical Laboratory, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; 3 The First Clinical College of Anhui Medical University, Hefei 230022, China
  • Online:2023-10-15 Published:2023-10-11

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Abstract: Objective: To analyze the clinical manifestations and genetic variation of 4 patients with X-linked ichthyosis(XLI). Methods: We collected cases with XLI from Chinese Han population, and recorded clinical characteristics and family information, while analyzing Single Nucleotide Variation (SNV), Insertion and Deletion (INDEL) and Copy Number Variation (CNV) by Whole Exome Sequencing. Results: Complete deletion of STS gene was detected in 4 patients, of whom one patient carried an additional nonsense mutation of FLG gene c.5368C>T (p.Gln1790Ter) and presenting with symptoms similar to epidermolytic ichthyosis. Conclusions: There are diverity among the clinical manifestations of XLI, whole exome sequencing is an effective method for diagnosing XLI. XLI patients with FLG mutations tend to present more severe clinical manifestations.

Key words: gene diagnosis, X-linked ichthyosis, STS gene, FLG gene