transmembrane protein 132E
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Several lines of evidence link the Gln-510 variant with autosomal recessive non-syndromic hearing loss. This variant has been reported in 2 siblings with prelingual, bilateral, severe to profound sensorineural hearing loss from a Chinese family of consanguineous marriage and was not found in 500 ethnically matched healthy controls. In mouse, TMEM132E is expressed in cochlea hair cells. In addition, knockdown in zebrafish affects the mechanotransduction of hair cells, a phenotype that can be rescued by wild-type human TMEM132E, but not by the Gln-510 variant.
TMEM132E is located in a region involved in a heterozygous deletion of approximately 4.7 Mb; this deletion, involving the NF1 gene and contiguous genes lying in its flanking regions, is observed in a patient with 17q11.2 microdeletion syndrome, a syndrome characterized by variable facial dysmorphism, mental retardation, developmental delay, and an excessive number of neurofibromas.