Meanwhile, p.Ile2430Thr is located in the AAA3 nucleotide-binding pocket (amino acids 2251–2505) of the DYNC2H1 protein hexomeric ring-like ATP-hydrolysing motor domain (https://www.uniprot.org/uniprot/Q8NCM8, accessed on 2 March 2022) in close proximity with three known Jeune syndrome-associated variants, including p.Ser2423Tyr [16], described also as “pathogenic” in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar, accessed on 2 March 2022), and p.Arg2426Cys [17] and p.Arg2426Leu [16,18]. Here, DYNC2H1 is linked to Jeune syndrome.