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. 2023 Apr 29:29:25-30.
eCollection 2023.

Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis

Dominic Williams  1 , Onyinye Onyia  1 , Doug D Chung  1 , Artak Kirakosyan  2 , Anna Hovakimyan  2 , Carter Payne  3   4 , Majid Moshirfar  4   5 , Anthony J Aldave  1
Affiliations

Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis

Dominic Williams et al. Mol Vis. .

Abstract

Purpose: Pre-Descemet corneal dystrophy (PDCD) with X-linked ichthyosis (XLI) is associated with mutations in or deletions of the steroid sulfatase gene (STS). As only three cases of genetically confirmed PDCD associated with XLI have been reported, we sought to expand our understanding of the genetic basis of PDCD by screening STS in two previously unreported families.

Materials and methods: The affected individuals underwent cutaneous and slit-lamp examinations. Saliva samples collected from each affected individual served as a source of DNA for the amplification of the 10 coding exons of STS and flanking DNA markers.

Results: The slit-lamp examination of three affected men (two of whom were brothers) from two families revealed bilateral punctate posterior corneal stromal opacities anterior to the Descemet membrane. Cutaneous examination demonstrated dry, coarse, scaly ichthyotic changes characteristic of XLI in all individuals. Genetic examination of the STS locus on the X chromosome in Case 1 revealed a deletion that spanned across DNA markers DXS1130-DXS237, which includes all the coding exons (exons 1-10) of STS. Genetic screening of Cases 2 and 3 revealed a partial deletion of the STS locus involving exons 1-7 and flanking DNA marker DXS1130 on the X chromosome.

Conclusions: PDCD with XLI may be associated with either partial or complete deletion of STS. Despite the identification of point mutations, partial deletion, and complete deletion of STS in different affected families reported to date, there was no apparent difference in the affected phenotype between the families, suggesting that the identified variants likely all resulted in loss of function of steroid sulfatase.

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Figures

Figure 1
Figure 1
Slit-lamp photomicrographs of pre-Descemet corneal dystrophy. Slit-lamp examination of Case 1 (A, right eye), Case 2 (B, right eye), and Case 3 (C, left eye) demonstrating diffuse, punctate, white-gray opacities in the posterior stroma anterior to the Descemet membrane.
Figure 2
Figure 2
Dermatologic findings of X-linked ichthyosis. External examination of Case 1 (A, forearm), Case 2 (B, leg), and Case 3 (C, thigh) with characteristic ichthyotic changes, including thickened, dry, coarse scaling skin.
Figure 3
Figure 3
PCR analysis of the STS gene and flanking DNA markers. A: PCR analysis of STS exons 1–10 in Cases 1–3 and two unrelated healthy controls. B: PCR analysis of flanking DNA markers DXS89–DXS1134 in Cases 1–3 and two unrelated healthy controls. The asterisk (*) indicates the two DNA markers, DXS1130 and DXS1131+, located on either side of and closest to the STS gene.
See this image and copyright information in PMC

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