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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...

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Autores principales: Reisenauer, AK, Wordingham, SV, York, J, Kokkonen, EWJ, Mclean, WHI, Wilson, NJ, Smith, FJD
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
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.
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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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