ANLN and branchiootic syndrome: Here, we describe the identification of a heterozygous missense variant (NM_018685.4: c.G1105A; NP_061155.2: p.G369R) in ANLN located in exon 6 in a three‐generation Chinese family with BO syndrome using whole‐exome sequencing, PCR‐Sanger sequencing and in silico analysis.