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  1. C100 医学部/医学系研究科
  2. C100b 紀要
  3. Nagoya journal of medical science
  4. 80(2)

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria

https://doi.org/10.18999/nagjms.80.2.267
https://doi.org/10.18999/nagjms.80.2.267
55db656d-dd17-4c81-b846-b88f52dce802
名前 / ファイル ライセンス アクション
13_Kobayashi_T.pdf 13_Kobayashi_T.pdf (12.8 MB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
公開日 2018-05-28
タイトル
タイトル Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria
著者 Kobayashi, Tomoko

× Kobayashi, Tomoko

WEKO 77348

Kobayashi, Tomoko

Search repository
Kono, Michihiro

× Kono, Michihiro

WEKO 77349

Kono, Michihiro

Search repository
Suganuma, Mutsumi

× Suganuma, Mutsumi

WEKO 77350

Suganuma, Mutsumi

Search repository
Akita, Hirotaka

× Akita, Hirotaka

WEKO 77351

Akita, Hirotaka

Search repository
Takai, Ayaka

× Takai, Ayaka

WEKO 77352

Takai, Ayaka

Search repository
Tsutsui, Kiyohiro

× Tsutsui, Kiyohiro

WEKO 77353

Tsutsui, Kiyohiro

Search repository
Inasaka, Yu

× Inasaka, Yu

WEKO 77354

Inasaka, Yu

Search repository
Takeichi, Takuya

× Takeichi, Takuya

WEKO 77355

Takeichi, Takuya

Search repository
Muro, Yoshinao

× Muro, Yoshinao

WEKO 77356

Muro, Yoshinao

Search repository
Akiyama, Masashi

× Akiyama, Masashi

WEKO 77357

Akiyama, Masashi

Search repository
キーワード
主題Scheme Other
主題 dyschromatosis symmetrica hereditaria
キーワード
主題Scheme Other
主題 DSH
キーワード
主題Scheme Other
主題 ADAR1
キーワード
主題Scheme Other
主題 phenotype-genotype correlation
キーワード
主題Scheme Other
主題 freckle-like maculey
抄録
内容記述 Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene (ADAR1 ) cause DSH. In the present study, we report five cases of DSH and identify a distinct known mutation in each patient. Furthermore, we review previously described cases with the five ADAR1 mutations found in the present study. We reviewed clinical and molecular findings in the present and previously reported cases and found an identical mutation can result in various phenotypic severities, even in one family. We found novel phenotype-genotype correlations between the presence/absence of facial lesions and the ADAR1 mutation c.3286C>T. The absence of freckle- like macules in the face was found to be more commonly associated with the mutation c.3286C>T than with the other 4 ADAR1 mutations (odds ratio = 0.056 [95% CI: 0.007–0.47, p < 0.005]). We objectively evaluated the severity of skin manifestations in the extremities using our definition of severity levels for such manifestations. This is the first semi-quantitative evaluation of skin manifestations in DSH. Using our definition, we found that patients with facial lesions with or without hypopigmented macules tend to show more severe symptoms on the extremities than patients without facials lesions show. Furthermore, no significant difference in the severity of the skin lesions was observed between the upper and the lower extremities, suggesting that sun exposure does not affect significantly the pathogenesis of DSH skin lesions.
内容記述タイプ Abstract
内容記述
内容記述 This work was supported in part by Grants-in-Aid for Scientific Research (C) 24591646 to MK from the Ministry of Education, Culture, Sports, Science and Technology of Japan, in part by a research grant to MK from the Kao Melanin Workshop and in part by a research grant to MK from the Japanese Society for Pigment Cell Research.
内容記述タイプ Other
出版者
出版者 Nagoya University Graduate School of Medicine, School of Medicine
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ departmental bulletin paper
ID登録
ID登録 10.18999/nagjms.80.2.267
ID登録タイプ JaLC
関連情報
関連タイプ isVersionOf
識別子タイプ URI
関連識別子 http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/802.html
ISSN(print)
収録物識別子タイプ ISSN
収録物識別子 0027-7622
書誌情報 Nagoya Journal of Medical Science

巻 80, 号 2, p. 267-277, 発行日 2018-05
著者版フラグ
値 publisher
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