Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in <i>CDSN</i>-Reference-Cited by-同舟云学术

Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN

Published:2023-03-02 Issue:5 Volume:48 Page:579-583
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Rayinda Tuntas¹²^ORCID,McSweeney Sheila M¹,Lalagianni Nikolina¹,Liu Lu³,Guy Alyson³,Fenton David¹,Stefanato Catherine M¹^ORCID,Dand Nick⁴^ORCID,McGrath John A¹^ORCID,Tziotzios Christos¹^ORCID

Affiliation:

1. St John’s Institute of Dermatology, King’s College London , UK

2. Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada , Indonesia

3. Viapath, Guy’s and St Thomas’ NHS Foundation Trust , London , UK

4. Department of Medical and Molecular Genetics, King’s College London , UK

Abstract

This report describes a case of an 18-year-old white British woman with HTSS1, whose phenotype was characterized by the inability to grow long scalp hair. Whole exome sequencing identified a novel pathogenic heterozygous nonsense variant (NM_001264.4: c.484C>T, NP_001255.3: p.Gln162Ter) in CDSN, which encodes corneodesmosin. HTSS1, described in this patient’s case, showed distinct clinical and histopathological features, thereby expanding the genotype–phenotype paradigm of HTSS1.

Funder

Beasiswa Pendidikan Pascasarjana Luar Negeri Direktorat Jenderal Pendidikan Tinggi (BPPLN DIKTI) Scholarship

British Skin Foundation Young Investigator Award

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llad067/49597187/llad067.pdf

Reference5 articles.

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3. Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp;van der Velden;J Dermatol,2020

4. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease;Oji;Am J Hum Genet,2010

5. A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family;Huang;Clin Exp Dermatol,2018