Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome
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...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Journal Article |
| Language: | English |
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2022
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| Online Access: | https://hdl.handle.net/10356/162254 |
| _version_ | 1811697312741720064 |
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| author | Loh, Abigail Y. T. Špoljar, Sanja Neo, Granville Y. W. Escande-Beillard, Nathalie Leushacke, Marc Luijten, Monique N. H. Venkatesh, Byrappa Bonnard, Carine van Steensel, Maurice A. M. Hamm, Henning Carmichael, Andrew Rajan, Neil Carney, Thomas J. Reversade, Bruno |
| author2 | Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet | Lee Kong Chian School of Medicine (LKCMedicine) Loh, Abigail Y. T. Špoljar, Sanja Neo, Granville Y. W. Escande-Beillard, Nathalie Leushacke, Marc Luijten, Monique N. H. Venkatesh, Byrappa Bonnard, Carine van Steensel, Maurice A. M. Hamm, Henning Carmichael, Andrew Rajan, Neil Carney, Thomas J. Reversade, Bruno |
| author_sort | Loh, Abigail Y. T. |
| collection | NTU |
| description | 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. |
| first_indexed | 2024-10-01T07:53:16Z |
| format | Journal Article |
| id | ntu-10356/162254 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2024-10-01T07:53:16Z |
| publishDate | 2022 |
| record_format | dspace |
| spelling | ntu-10356/1622542022-10-11T04:14:32Z Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome Loh, Abigail Y. T. Špoljar, Sanja Neo, Granville Y. W. Escande-Beillard, Nathalie Leushacke, Marc Luijten, Monique N. H. Venkatesh, Byrappa Bonnard, Carine van Steensel, Maurice A. M. Hamm, Henning Carmichael, Andrew Rajan, Neil Carney, Thomas J. Reversade, Bruno Lee Kong Chian School of Medicine (LKCMedicine) Skin Research Institute of Singapore (SRIS), A*STAR Science::Medicine Adermatoglyphia Huriez Syndrome 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. Agency for Science, Technology and Research (A*STAR) This study was supported by the Strategic Positioning Fund for Genetic Orphan Diseases, a SureKids grant by the Biomedical Research Council from the Agency for Science, Technology and Research in Singapore. Neil Rajan's research is supported by the New-castle NIHR Biomedical Research Centre (BRC). 2022-10-11T04:14:32Z 2022-10-11T04:14:32Z 2022 Journal Article Loh, A. Y. T., Špoljar, S., Neo, G. Y. W., Escande-Beillard, N., Leushacke, M., Luijten, M. N. H., Venkatesh, B., Bonnard, C., van Steensel, M. A. M., Hamm, H., Carmichael, A., Rajan, N., Carney, T. J. & Reversade, B. (2022). Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome. American Journal of Medical Genetics - Part A, 188(6), 1752-1760. https://dx.doi.org/10.1002/ajmg.a.62703 1552-4825 https://hdl.handle.net/10356/162254 10.1002/ajmg.a.62703 35212137 2-s2.0-85125185621 6 188 1752 1760 en American Journal of Medical Genetics - Part A © 2022 Wiley Periodicals LLC. All rights reserved. |
| spellingShingle | Science::Medicine Adermatoglyphia Huriez Syndrome Loh, Abigail Y. T. Špoljar, Sanja Neo, Granville Y. W. Escande-Beillard, Nathalie Leushacke, Marc Luijten, Monique N. H. Venkatesh, Byrappa Bonnard, Carine van Steensel, Maurice A. M. Hamm, Henning Carmichael, Andrew Rajan, Neil Carney, Thomas J. Reversade, Bruno Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome |
| title | Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome |
| title_full | Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome |
| title_fullStr | Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome |
| title_full_unstemmed | Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome |
| title_short | Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome |
| title_sort | huriez syndrome additional pathogenic variants supporting allelism to smarcad syndrome |
| topic | Science::Medicine Adermatoglyphia Huriez Syndrome |
| url | https://hdl.handle.net/10356/162254 |
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