A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia

作者：Khalil S; Hayashi R; Daou L; Staiteieh A; Abbas O; Bergqvist C; Nemer G; Shimomura Y; Kurban M^*

来源：Clinical and Experimental Dermatology, 2017, 42(3): 313-315.

DOI：10.1111/ced.13052

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.

• 出版日期2017-4