Two different mutations in TCTN1 (NM_001082538.2:c.32_43del: p. (Val11_Leu14del) and NM_001082538.2:c.1385dupT: p. (Trp463Valfs*58)) were identified in patients with MKS, while a splice site mutation (NM_001082538.2:c.342-2A > G) was identified in two families, one with JS_like, and a fourth family with JS/OFD. The gene discussed is TCTN1; the disease is Meckel syndrome, type 1.