A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

Kimiko Nakajima; Hisato Suzuki; Mayuko Yamamoto; Tetsuya Yamamoto; Tomoko Kawai; Kazuhiko Nakabayashi; Kenichiro Hata; Kenjiro Kosaki; Hideki Nakajima; Shigetoshi Sano; Akiharu Kubo

doi:10.1111/1346-8138.16372

A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

Kimiko Nakajima, Hisato Suzuki, Mayuko Yamamoto, Tetsuya Yamamoto, Tomoko Kawai, Kazuhiko Nakabayashi, Kenichiro Hata, Kenjiro Kosaki, Hideki Nakajima, Shigetoshi Sano, Akiharu Kubo

Center for Medical Genetics

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Periodontal Ehlers–Danlos syndrome (pEDS) is an autosomal-dominant disorder first described by Stewart in 1977 that is characterized by severe gingival recession and periodontitis that triggers premature loss of permanent teeth and alveolar bone absorption. It was recently shown that pEDS is caused by a heterozygous missense mutation in C1R or C1S, which encode complement 1 proteases. Here, we report a familial case of pEDS with a novel heterozygous missense mutation, c.674G>C (p.R225P), in C1R (NM_001733.4). The case exhibited pretibial hyperpigmentation and extended periodontitis but neither skin extensibility nor joint hypermobility, suggesting that this mutation will expand the definition of pEDS.

Original language	English
Pages (from-to)	714-718
Number of pages	5
Journal	Journal of Dermatology
Volume	49
Issue number	7
DOIs	https://doi.org/10.1111/1346-8138.16372
Publication status	Published - 2022 Jul

Keywords

C1R
familial case
missense mutation
periodontal Ehlers–Danlos syndrome
pretibial hyperpigmentation

ASJC Scopus subject areas

Dermatology

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10.1111/1346-8138.16372

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title = "A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R",

abstract = "Periodontal Ehlers–Danlos syndrome (pEDS) is an autosomal-dominant disorder first described by Stewart in 1977 that is characterized by severe gingival recession and periodontitis that triggers premature loss of permanent teeth and alveolar bone absorption. It was recently shown that pEDS is caused by a heterozygous missense mutation in C1R or C1S, which encode complement 1 proteases. Here, we report a familial case of pEDS with a novel heterozygous missense mutation, c.674G>C (p.R225P), in C1R (NM_001733.4). The case exhibited pretibial hyperpigmentation and extended periodontitis but neither skin extensibility nor joint hypermobility, suggesting that this mutation will expand the definition of pEDS.",

keywords = "C1R, familial case, missense mutation, periodontal Ehlers–Danlos syndrome, pretibial hyperpigmentation",

author = "Kimiko Nakajima and Hisato Suzuki and Mayuko Yamamoto and Tetsuya Yamamoto and Tomoko Kawai and Kazuhiko Nakabayashi and Kenichiro Hata and Kenjiro Kosaki and Hideki Nakajima and Shigetoshi Sano and Akiharu Kubo",

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year = "2022",

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doi = "10.1111/1346-8138.16372",

language = "English",

volume = "49",

pages = "714--718",

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T1 - A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

AU - Nakajima, Kimiko

AU - Suzuki, Hisato

AU - Yamamoto, Mayuko

AU - Yamamoto, Tetsuya

AU - Kawai, Tomoko

AU - Nakabayashi, Kazuhiko

AU - Hata, Kenichiro

AU - Kosaki, Kenjiro

AU - Nakajima, Hideki

AU - Sano, Shigetoshi

AU - Kubo, Akiharu

PY - 2022/7

Y1 - 2022/7

N2 - Periodontal Ehlers–Danlos syndrome (pEDS) is an autosomal-dominant disorder first described by Stewart in 1977 that is characterized by severe gingival recession and periodontitis that triggers premature loss of permanent teeth and alveolar bone absorption. It was recently shown that pEDS is caused by a heterozygous missense mutation in C1R or C1S, which encode complement 1 proteases. Here, we report a familial case of pEDS with a novel heterozygous missense mutation, c.674G>C (p.R225P), in C1R (NM_001733.4). The case exhibited pretibial hyperpigmentation and extended periodontitis but neither skin extensibility nor joint hypermobility, suggesting that this mutation will expand the definition of pEDS.

AB - Periodontal Ehlers–Danlos syndrome (pEDS) is an autosomal-dominant disorder first described by Stewart in 1977 that is characterized by severe gingival recession and periodontitis that triggers premature loss of permanent teeth and alveolar bone absorption. It was recently shown that pEDS is caused by a heterozygous missense mutation in C1R or C1S, which encode complement 1 proteases. Here, we report a familial case of pEDS with a novel heterozygous missense mutation, c.674G>C (p.R225P), in C1R (NM_001733.4). The case exhibited pretibial hyperpigmentation and extended periodontitis but neither skin extensibility nor joint hypermobility, suggesting that this mutation will expand the definition of pEDS.

KW - C1R

KW - familial case

KW - missense mutation

KW - periodontal Ehlers–Danlos syndrome

KW - pretibial hyperpigmentation

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JO - Journal of Dermatology

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ER -

A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

Abstract

Keywords

ASJC Scopus subject areas

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