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

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

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Abstract

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.

Original language	English
Article number	12
Journal	Human Genome Variation
Volume	5
Issue number	1
DOIs	https://doi.org/10.1038/s41439-018-0012-z
Publication status	Published - 2018 Dec 1

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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abstract = "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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AU - Ichihashi, Yosuke

AU - Takagi, Masaki

AU - Ishii, Tomohiro

AU - Watanabe, Kenji

AU - Nishimura, Gen

AU - Hasegawa, Tomonobu

PY - 2018/12/1

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N2 - 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.

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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