• autosomal recessive nonsyndromic deafness 67

This report describes deafness, autosomal recessive 67. The human gene implicated in this disease is LHFPL5, a tetraspan transmembrane protein thought to play a role in mechanotransduction in the hair cells of the inner ear. There is a single orthologous gene in flies, Tmhs, for which RNAi-targeting constructs, alleles caused by insertional mutagenesis, and many classical amorphic and hypomorphic mutations have been generated. Dmel\Tmhs is also orthologous to the human genes LHFPL3 and LHFPL4.

The human LHFPL5 gene has not been introduced into flies.

Adult flies heterozygous for a loss-of-function mutation of Dmel\Tmhs 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]