BRENS syndrome

Definition:

Biliary, renal, neurologic, and skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene, that encodes a ciliary protein.

References:

[1]. Hiroaki Ishikawa, et al. TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella. Elife. 2014 Jan 1;3:e01566. [Content Brief]

[2]. Majid Alfadhel, et al. Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations. Mol Syndromol. 2021 Jun;12(3):133-140. [Content Brief]

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