Identification of Novel Compound Heterozygous Variants of the Gene in Boucher-Neuhäuser Syndrome.

Boucher-Neuhäuser syndrome (BNS, MIM 215470) is a rare autosomal recessive syndrome caused by mutations in the gene. Few BNS cases have been reported for functional validation at the RNA level. Herein, we report on the family of a 17-year-old girl with clinical characteristics of BNS, genetic validation, and a systematic review of variants related to BNS.