The identical homozygous single-nucleotide variant c.224T>G (p.Val75Gly) in exon 2/17 of the BBS2 gene on chromosome 16 has been described in four families with confirmed clinical diagnosis of BBS on ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/4569/?oq=BBS2%5bgene%5d+AND+Val75Gly%5bvarname%5d+&m=NM_031885.5(BBS2):c.224T%3EG%20(p.Val75Gly; Accessed on: 24 April 2023). Here, BBS2 is linked to Bardet-Biedl syndrome.