This report describes deafness, autosomal recessive 36. The human gene implicated in this disease is ESPN (espin), a multifunctional actin-bundling protein that plays a critical role in sensory transduction. There is a single orthologous gene in flies, f (forked), for which RNAi-targeting constructs, alleles caused by insertional mutagenesis, and many classical amorphic and hypomorphic mutations have been generated. ESPN is also implicated in Usher syndrome, type 1M (MIM:618632) and may be implicated in a form of autosomal dominant nonsyndromic deafness without vestibular involvement (MIM:609006). Dmel\f is also orthologous to a second human gene, ESPNL.
The human ESPN gene has not been introduced into flies.
Adult flies homozygous for a loss-of-function mutation of Dmel\f have been tested for response to an acoustic stimulus, the Drosophila courtship song, using an electrophysiological assay to record sound-evoked potentials from the antennae. Mean responses are significantly reduced, compared to wild-type flies.
[updated Dec. 2019 by FlyBase; FBrf0222196]
[DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36](https://omim.org/entry/609006)
[ESPIN; ESPN](https://omim.org/entry/606351)
Autosomal recessive deafness-36 with or without vestibular involvement (DFNB36) is caused by homozygous mutation in the espin gene (ESPN). A form of autosomal dominant nonsyndromic deafness without vestibular involvement may be caused by heterozygous mutation in the ESPN gene.
ESPN encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. [Gene Cards, ESPN; 2019.12.17]
Many to one: 2 human genes to 1 Drosophila.
Low-scoring ortholog of human ESPN and ESPNL (1 Drosophila to 2 human). Dmel\f shares 20-22% identity and 33-35% similarity with the human genes.
