For example, the CCDC41 gene variants would be present in nephronophthisis (37); LSS gene variants can result in alopecia (38); LTBP3 gene variants are characterized by hypoplastic amelogenesis imperfecta (39); NTRK1 gene variants have been found to cause congenital insensitivity to pain (40). The gene discussed is LSS; the disease is nephronophthisis.