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Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease
BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150463/ https://www.ncbi.nlm.nih.gov/pubmed/24372084 http://dx.doi.org/10.1111/bjd.12813 |
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author | Reisenauer, AK Wordingham, SV York, J Kokkonen, EWJ Mclean, WHI Wilson, NJ Smith, FJD |
author_facet | Reisenauer, AK Wordingham, SV York, J Kokkonen, EWJ Mclean, WHI Wilson, NJ Smith, FJD |
author_sort | Reisenauer, AK |
collection | PubMed |
description | BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level may be necessary to confirm the diagnosis. OBJECTIVES: To identify the underlying genetic defect in a 48-year-old Asian-American woman with a clinical diagnosis of GGD. METHODS: Histological analysis was performed on a skin biopsy using haematoxylin–eosin staining. KRT5 (the gene encoding keratin 5) was amplified from genomic DNA and directly sequenced. RESULTS: The patient had a history of pruritus and hyperpigmented erythematous macules and thin papules along the flexor surfaces of her arms, her upper back and neck, axillae and inframammary areas. Hypopigmented macules were seen among the hyperpigmentation. A heterozygous 1-bp insertion mutation in KRT5 (c.38dupG; p.Ser14GlnfsTer3) was identified in the proband. This mutation occurs within the head domain of the keratin 5 protein leading to a frameshift and premature stop codon. CONCLUSIONS: From the histological findings and mutation analysis the individual was identified as having GGD due to haploinsufficiency of keratin 5. |
format | Online Article Text |
id | pubmed-4150463 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Blackwell Publishing Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-41504632014-09-04 Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease Reisenauer, AK Wordingham, SV York, J Kokkonen, EWJ Mclean, WHI Wilson, NJ Smith, FJD Br J Dermatol Original Articles BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level may be necessary to confirm the diagnosis. OBJECTIVES: To identify the underlying genetic defect in a 48-year-old Asian-American woman with a clinical diagnosis of GGD. METHODS: Histological analysis was performed on a skin biopsy using haematoxylin–eosin staining. KRT5 (the gene encoding keratin 5) was amplified from genomic DNA and directly sequenced. RESULTS: The patient had a history of pruritus and hyperpigmented erythematous macules and thin papules along the flexor surfaces of her arms, her upper back and neck, axillae and inframammary areas. Hypopigmented macules were seen among the hyperpigmentation. A heterozygous 1-bp insertion mutation in KRT5 (c.38dupG; p.Ser14GlnfsTer3) was identified in the proband. This mutation occurs within the head domain of the keratin 5 protein leading to a frameshift and premature stop codon. CONCLUSIONS: From the histological findings and mutation analysis the individual was identified as having GGD due to haploinsufficiency of keratin 5. Blackwell Publishing Ltd 2014-06 2014-06-19 /pmc/articles/PMC4150463/ /pubmed/24372084 http://dx.doi.org/10.1111/bjd.12813 Text en © 2013 The Authors British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. http://creativecommons.org/licenses/by/3.0/ This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Reisenauer, AK Wordingham, SV York, J Kokkonen, EWJ Mclean, WHI Wilson, NJ Smith, FJD Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease |
title | Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease |
title_full | Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease |
title_fullStr | Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease |
title_full_unstemmed | Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease |
title_short | Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease |
title_sort | heterozygous frameshift mutation in keratin 5 in a family with galli–galli disease |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150463/ https://www.ncbi.nlm.nih.gov/pubmed/24372084 http://dx.doi.org/10.1111/bjd.12813 |
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