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  • Title: A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.
    Author: Khalil S, Hayashi R, Daou L, Staiteieh SA, Abbas O, Bergqvist C, Nemer G, Shimomura Y, Kurban M.
    Journal: Clin Exp Dermatol; 2017 Apr; 42(3):313-315. PubMed ID: 28247548.
    Abstract:
    The Wnt signalling pathway is a major pathway involved in the embryogenic development of the various organs of the body. Appropriate signalling in this pathway relies on the proper functioning of several proteins including the R-spondin family of proteins. Deactivating mutations in R-spondin 4 are associated with anonychia. We present the case of a 26-year-old man presenting with anonychia of the 20 nails, which had been present since birth. Using genetic studies, we identified a novel nonsense mutation, c.164-165TC>AA, characterized by two consecutive mismatch bases. To our knowledge, this mutation is the first to be reported in R-spondin 4 in a Lebanese population. Evaluating new patients with anonychia provides fruitful clinical and molecular findings.
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