Biliary, Renal, Neurological, and Skeletal syndrome in a Chinese boy.

Abstract

Biliary, Renal, Neurological, and Skeletal syndrome (BRENS syndrome) is a very rare ciliopathy caused by variants in the TTC26 (OMIM 617453) gene. There are only a few case reports of BRENS syndrome in the literature. We report here a Chinese case of BRENS syndrome who presented with kidney, neurological, skeletal, and other features. It is the first description of BRENS syndrome without biliary involvement. Gene testing revealed three novel compound heterozygous variants in the TTC26 gene, c.1069 + 5G > A in one allele from the mother and c.511A > G (p.Ile171Val) and c.1099T > C (p.Ser367Pro) in another allele from the father. We suggest that patients with BRENS syndrome may exhibit variable phenotypes.