A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease

Haihui Liao; Yiwei Zhao; David U. Baty; John A. McGrath; Jemima E. Mellerio; W. H. Irwin McLean

doi:10.1038/sj.jid.5700523

A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease

Haihui Liao, Yiwei Zhao, David U. Baty, John A. McGrath, Jemima E. Mellerio, W. H. Irwin McLean

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54 Citations (Scopus)

Abstract

Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by reticulate pigmentation of the flexures. By direct DNA sequencing, we have identified a frameshift mutation in exon 1 of KRT5 in the proband from an extended Spanish DDD kindred. Cloning of PCR products confirmed that this was a 2-bp deletion mutation, designated c.442delAG, leading to a premature termination codon in the V1 domain of the K5 polypeptide, designated p.S148fsX30. These data confirm that haploinsufficiency for K5 causes DDD and points to a prominent role for the keratin intermediate filament cytoskeleton within basal keratinocytes in epidermal pigment biology.

Original language	English
Pages (from-to)	298-300
Number of pages	3
Journal	Journal of Investigative Dermatology
Volume	127
Issue number	2
DOIs	https://doi.org/10.1038/sj.jid.5700523
Publication status	Published - Feb 2007

Keywords

Adult
Codon, Terminator
Exons
Female
Frameshift Mutation
Gene Deletion
Genes, Dominant
Heterozygote
Humans
Hyperpigmentation
Keratin-5
Protein Structure, Tertiary

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10.1038/sj.jid.5700523

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title = "A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease",

abstract = "Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by reticulate pigmentation of the flexures. By direct DNA sequencing, we have identified a frameshift mutation in exon 1 of KRT5 in the proband from an extended Spanish DDD kindred. Cloning of PCR products confirmed that this was a 2-bp deletion mutation, designated c.442delAG, leading to a premature termination codon in the V1 domain of the K5 polypeptide, designated p.S148fsX30. These data confirm that haploinsufficiency for K5 causes DDD and points to a prominent role for the keratin intermediate filament cytoskeleton within basal keratinocytes in epidermal pigment biology.",

keywords = "Adult, Codon, Terminator, Exons, Female, Frameshift Mutation, Gene Deletion, Genes, Dominant, Heterozygote, Humans, Hyperpigmentation, Keratin-5, Protein Structure, Tertiary",

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doi = "10.1038/sj.jid.5700523",

language = "English",

volume = "127",

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T1 - A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease

AU - Liao, Haihui

AU - Zhao, Yiwei

AU - Baty, David U.

AU - McGrath, John A.

AU - Mellerio, Jemima E.

AU - McLean, W. H. Irwin

PY - 2007/2

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AB - Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by reticulate pigmentation of the flexures. By direct DNA sequencing, we have identified a frameshift mutation in exon 1 of KRT5 in the proband from an extended Spanish DDD kindred. Cloning of PCR products confirmed that this was a 2-bp deletion mutation, designated c.442delAG, leading to a premature termination codon in the V1 domain of the K5 polypeptide, designated p.S148fsX30. These data confirm that haploinsufficiency for K5 causes DDD and points to a prominent role for the keratin intermediate filament cytoskeleton within basal keratinocytes in epidermal pigment biology.

KW - Adult

KW - Codon, Terminator

KW - Exons

KW - Female

KW - Frameshift Mutation

KW - Gene Deletion

KW - Genes, Dominant

KW - Heterozygote

KW - Humans

KW - Hyperpigmentation

KW - Keratin-5

KW - Protein Structure, Tertiary

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DO - 10.1038/sj.jid.5700523

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JO - Journal of Investigative Dermatology

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ER -

A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease

Abstract

Keywords

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