Anoctamin 10 (ANO10)

Prioritization of all detected sequence variants led to four candidate genes, one of which contained a variant with a high base pair conservation score. This variant was a leucine-to-arginine substitution in the DUF 590 domain of a 16K transmembrane protein, a putative calcium-activated chloride channel encoded by anoctamin 10 (ANO10).

The analysis of ANO10 by Sanger sequencing revealed three additional mutations: a homozygous mutation in a Serbian family and a compound-heterozygous splice-site mutation and a frameshift mutation in a French family. This illustrates the power of using initial homozygosity mapping with next-generation sequencing technology to identify genes involved in autosomal-recessive diseases.