# Novel denovo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation

**Authors:** Ping Wei, Weizhe Shi, Tianying Nong, Caixia Xian, Xia Li, Zhaohui Li, Xin Li, Jianping Wu, Liyuan Shang, Fulong Xu, Yibo Xu, Hongwen Xu, Mingwei Zhu

PMC · DOI: 10.1016/j.gendis.2023.05.008 · Genes & Diseases · 2023-07-01

## Full-text entities

- **Genes:** Trpv4 (transient receptor potential cation channel, subfamily V, member 4) [NCBI Gene 63873] {aka 0610033B08Rik, OTRPC4, Trp12, VR-OAC, VRL-2, VROAC}, TRPV4 (transient receptor potential cation channel subfamily V member 4) [NCBI Gene 59341] {aka BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA}, MYCN (MYCN proto-oncogene, bHLH transcription factor) [NCBI Gene 4613] {aka FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc}, HSP90B1 (heat shock protein 90 beta family member 1) [NCBI Gene 7184] {aka ECGP, GP96, GRP94, HEL-S-125m, HEL35, TRA1}, MYC (MYC proto-oncogene, bHLH transcription factor) [NCBI Gene 4609] {aka MRTL, MYCC, bHLHe39, c-Myc}
- **Diseases:** delay in the ossification of carpal bones (MESH:C566687), kyphoscoliosis (MESH:C565711), deformity of the lower limbs (MESH:D038061), varus and flexion deformities (MESH:D060905), bones (MESH:D001847), scoliosis (MESH:D012600), platyspondyly (MESH:D013122), shortness of the femoral neck (MESH:D005265), genu valgum (MESH:D056304), chondrogenesis (MESH:C536017), Metatropic dysplasia (MESH:C537356), short postnatal stature (MESH:D006130), peripheral axonal neuropathy (MESH:D010523), ossification of the (MESH:C562735), skeletal dysplasia (MESH:C535858), chondrodysplasia (MESH:D010009), congenital bone dysplasia (MESH:D001848), Radiographic abnormalities (MESH:D000089202), genetic lesion (MESH:D020022), joint movement restriction (MESH:D002313)
- **Chemicals:** Ca2+ (-), DAPI (MESH:C007293), calcium (MESH:D002118), Alcian blue (MESH:D000423)
- **Species:** Homo sapiens (human, species) [taxon 9606], Mus musculus (house mouse, species) [taxon 10090]
- **Mutations:** c.2353 T > C
- **Cell lines:** HEK293 — Homo sapiens (Human), Transformed cell line (CVCL_0045), Lenti — Homo sapiens (Human), Induced pluripotent stem cell (CVCL_A4EW), ATDC5 — Mus musculus (Mouse), Mouse teratocarcinoma, Cancer cell line (CVCL_3894)

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## References

5 references — full list in the complete paper: https://tomesphere.com/paper/PMC10825422/full.md

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Source: https://tomesphere.com/paper/PMC10825422