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Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome

Lookup NU author(s): Dr Andrew Carmichael, Dr Neil RajanORCiD

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Abstract

© 2022 Wiley Periodicals LLC. Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). We report herein three HRZ families from Croatia, the Netherlands, and Germany. Deep sequencing followed by Sanger validation, confirmed the presence of germline causative SMARCAD1 heterozygous pathogenic variants. All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed cSCC at 32 years of age. Two novel monoallelic germline mutations were identified which are predicted to disrupt the first exon-intron boundary of the skin-specific SMARCAD1 isoform. On the basis of phenotypic and genotypic convergence with Adermatoglyphia (OMIM136000) and Basan syndrome (OMIM129200), our results lend credence to the notion that these three Mendelian disorders are allelic. We propose adding Huriez syndrome to the previously suggested SMARCAD syndrome designation, which was originally invoked to describe the spectrum of monogenic disorders between Adermatoglyphia and Basan syndrome.


Publication metadata

Author(s): Loh AYT, Spoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics, Part A

Year: 2022

Pages: Epub ahead of print

Online publication date: 25/02/2022

Acceptance date: 10/02/2022

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: John Wiley and Sons Inc

URL: https://doi.org/10.1002/ajmg.a.62703

DOI: 10.1002/ajmg.a.62703


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