However, it is important to note that unlike any of the patients with ATD who have two inherited variants in DYNC2H1, patient 10 with SRPS has three variants, of which NM_001080463.1:c.872G > T, NP_001073932.1:p.Cys291Phe, and NM_001080463.1:c.536G > A, NP_001073932.1:p.Trp179* are located on allele 1, and NM_001080463.1:c.10343T > C, NP_001073932.1:p.Leu3448Pro is located on allele 2. The gene discussed is DYNC2H1; the disease is Jeune syndrome.