Moreover, we found a heterozygous missense variant in exon6 of ANLN: NM_018685.4: c.G1105A; NP_061155.2: p.G369R that co‐segregated with BO syndrome in this distinctive family, suggesting a highly conserved role of Pro369 in the human amino acid sequence. The gene discussed is ANLN; the disease is branchiootic syndrome.