title: A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.
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.
authors.affiliation: Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: S
authors.initials: S
authors.lastname: Khalil
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Hayashi
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: L
authors.initials: L
authors.lastname: Daou
authors.affiliation: Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
authors.forename: S A
authors.initials: SA
authors.lastname: Staiteieh
authors.affiliation: Department of Dermatology, American University of Beirut, Beirut, Lebanon.
authors.forename: O
authors.initials: O
authors.lastname: Abbas
authors.affiliation: Department of Dermatology, American University of Beirut, Beirut, Lebanon.
authors.forename: C
authors.initials: C
authors.lastname: Bergqvist
authors.affiliation: Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
authors.forename: G
authors.initials: G
authors.lastname: Nemer
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.|Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shimomura
authors.affiliation: Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.|Department of Dermatology, American University of Beirut, Beirut, Lebanon.|Department of Dermatology, Columbia University Medical Center, New York, USA.
authors.forename: M
authors.initials: M
authors.lastname: Kurban
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000151:congenital* / Q000235:genetics; D019699:Thrombospondins / Q000235:genetics*; D000098907:R-Spondins
chemical_list: D018389:Codon, Nonsense; D019699:Thrombospondins; C516169:RSPO4 protein, human; D000098907:R-Spondins