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Cited by 54Genetic and rare skin diseases.melanin and skin pigmentationGenomics and Rare Diseases

Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease

Kono, M., Sugiura, K., Suganuma, M., Hayashi, M., Takama, H., Suzuki, T., Matsunaga, K., Tomita, Y. +1 more·2013·Human Molecular Genetics
DOI 10.1093/hmg/ddt207
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Abstract

Reticulate acropigmentation of Kitamura (RAK) is a rare genetic disorder of cutaneous pigmentation with an autosomal dominant pattern of inheritance and a high penetration rate. The characteristic skin lesions are reticulate, slightly depressed pigmented macules mainly affecting the dorsa of the hands and feet, which first appear before puberty and subsequently expand to the proximal limb and the trunk. To identify mutations that cause RAK, we performed exome sequencing of four family members in a pedigree with RAK. Fifty-three SNV/Indels were considered as candidate mutations after some condition narrowing. We confirmed the mutation status in each candidate gene of four other members in the same pedigree to find the gene that matched the mutation status and phenotype of each member. A mutation in ADAM10 encoding a zinc metalloprotease, a disintegrin and metalloprotease domain-containing protein 10 (ADAM10), was identified in the RAK family. ADAM10 is known to be involved in the ectodomain shedding of various substrates in the skin. Sanger sequencing of four additional unrelated RAK patients revealed four additional ADAM10 mutations. We identified a total of three truncating mutations, a splice site mutation and a missense mutation in ADAM10. We searched for mutations in the KRT5 gene, a causative gene for the similar pigmentation disorder Dowling-Degos disease (DDD), in all the patients and found no KRT5 mutation. These results reveal that mutations in ADAM10 are a cause of RAK and that RAK is an independent clinical entity distinct from DDD.

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Crossref · 10.1093/hmg/ddt207

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  • The ADAMs contain prodomain and metalloprotease domains; the fold of the metalloprotease is known, but not that of the prodomain, which has no homologs of known structure.

    “The ADAMs contain prodomain and metalloprotease domains; the fold of the metalloprotease is known (23, 24), but not that of the prodomain, which has no homologs of known structure.”

    From Accurate prediction of protein structures and interactions using a 3-track network (2021) · cites this paper as [23]

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Authors
Kono, M., Sugiura, K., Suganuma, M., Hayashi, M., Takama, H., Suzuki, T., Matsunaga, K., Tomita, Y., & Akiyama, M.
Affiliations
  • Nagoya University (JP)
  • Yamagata University (JP)
  • Fujita Health University (JP)
Corresponding author
  • Kono, M.
  • Akiyama, M.
ORCID
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2013-05-10
Volume
22
Issue
17
Pages
3524-3533
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
DOI
10.1093/hmg/ddt207
OpenAlex
W2163810499
Cited by
54
References
36
Citations by year
2025: 5 · 2024: 4 · 2023: 1 · 2022: 3 · 2021: 3 · 2020: 2 · 2019: 4 · 2018: 3 · 2017: 10 · 2016: 4 · 2015: 8 · 2014: 5 · 2013: 2
FWCI
4.20
Type
journal article
Language
en
Open access
closed
Locations
  • Human Molecular Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
ADAM10, Dowling-Degos disease, keratin 5, zinc metalloprotease, ectodomain shedding, autosomal dominant inheritance, truncating mutations, missense mutations, splice site mutation, genotype-phenotype correlation
MeSH terms
ADAM10 Protein, Adult, Aged, Cells, Cultured, Female, Humans, Male, Membrane Proteins, Middle Aged, Pedigree, Phylogeny, Skin Diseases, Genetic, Sequence Analysis, DNA, Skin Diseases, Papulosquamous, Hyperpigmentation, Mutation, Missense, Sequence Analysis, Protein, ADAM Proteins, Keratin-5, Amyloid Precursor Protein Secretases, INDEL Mutation, Young Adult, Exome

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