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A single Iranian consanguineous family presented with postlingual, moderate-to-severe autosomal recessive sensorineural hearing loss. Exome sequencing identified a novel homozygous frameshift variant c.1934_1937del (p.Thr645LysfsTer52) in ANKRD24 that segregated fully with the phenotype (PMID:39434538).
ANKRD24 is a pivotal constituent of the stereocilia rootlet in cochlear hair cells and interacts with TRIOBP, a known deafness protein, supporting a loss-of-function mechanism consistent with human sensorineural hearing impairment. No additional families or functional rescue studies have yet been reported, indicating that further replication and in vitro modelling are needed to solidify this association.
Key Take-home: ANKRD24 should be considered in gene panels for autosomal recessive sensorineural hearing loss, with c.1934_1937del (p.Thr645LysfsTer52) as a candidate pathogenic allele.
Gene–Disease AssociationLimitedSingle consanguineous family with a novel homozygous frameshift variant segregating with autosomal recessive SNHL, supported by cochlear hair cell expression data Genetic EvidenceLimitedOne homozygous loss-of-function variant in one family; segregation observed Functional EvidenceLimitedANKRD24 localizes to stereocilia rootlets and interacts with TRIOBP, consistent with hair cell function |