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4 Possible Causes for Mutation in the C2CD3 Gene

  • Skeletal Dysplasia

    Recently, mutations in the gene encoding the centriolar protein C2CD3 have been described in two families with a new sub-type of OFDS (OFD14), with microcephaly and cerebral[ncbi.nlm.nih.gov]

  • Mohr Syndrome

    . * equally contributor The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation C. Thauvin-Robinet*, J.S. Lee*, E. Lopez, V.[gad-bfc.org] TMEM107 recruits ciliopathy proteins to anchored periodic subdomains of the ciliary transition zone membrane and is mutated in Joubert syndrome.[gad-bfc.org]

  • Gorlin Psaume Syndrome

    The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nature Genetics, 46 , 905–911. Google Scholar Thurston, E. O. (1909).[link.springer.com] Human Mutation, 30 , E320–E329. CrossRef PubMed Google Scholar Thauvin-Robinet, C., Lee, J. S., Lopez, E., et al. (2014).[link.springer.com]

  • Orofaciodigital Syndrome Type 7

    OFD type XIV syndrome (OFDXIV) This OFD subtype was defined after the identification of mutations in the C2CD3 gene.[doi.org] An additional C2CD3 compound heterozygous mutation (Additional file 2 : Table S2) was identified during the screening of 34 OFD cases negative for mutations in known OFD genes[doi.org] The first homozygous nonsense mutation (c.184C T; p.Arg62*) was identified in a familial case in which the index case presented with classical OFD signs (lingual hamartoma[doi.org]

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