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A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia
Author(s) -
Khalil S.,
Hayashi R.,
Daou L.,
Staiteieh S. A.,
Abbas O.,
Bergqvist C.,
Nemer G.,
Shimomura Y.,
Kurban M.
Publication year - 2017
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13052
Subject(s) - nonsense mutation , mutation , wnt signaling pathway , genetics , nonsense , gene , biology , population , bioinformatics , medicine , missense mutation , environmental health
Summary 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.