Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

Yosuke Ichihashi; Masaki Takagi; Tomohiro Ishii; Kenji Watanabe; Gen Nishimura; Tomonobu Hasegawa

doi:10.1038/s41439-018-0012-z

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

Yosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, Kenji Watanabe, Gen Nishimura, Tomonobu Hasegawa

研究成果: Article › 査読

1 被引用数 (Scopus)

抄録

Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED.

本文言語	English
論文番号	12
ジャーナル	Human Genome Variation
巻	5
号	1
DOI	https://doi.org/10.1038/s41439-018-0012-z
出版ステータス	Published - 2018 12月 1

ASJC Scopus subject areas

生化学
分子生物学
遺伝学

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10.1038/s41439-018-0012-z

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author = "Yosuke Ichihashi and Masaki Takagi and Tomohiro Ishii and Kenji Watanabe and Gen Nishimura and Tomonobu Hasegawa",

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AU - Ichihashi, Yosuke

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AU - Nishimura, Gen

AU - Hasegawa, Tomonobu

PY - 2018/12/1

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AB - Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED.

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Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

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