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GENATLAS PHENOTYPE

last update : 05-03-2025

Symbol	PRLTS7
Location	1q22
Name	Perrault syndrome 7
Corresponding gene	DAP3
Main clinical features	multisystem disorder of combined oxidative phosphorylation deficiency with pleiotropic presentations, consistent with mitochondrial dysfunction sensorineural hearing loss and ovarian insufficiency in females; age of onset and severity are variable mild intellectual disability, and developmental delay
Genetic determination	autosomal recessive
Function/system disorder	ear
	sex-genitalia
Type	disease

Remark(s)

bi-allelic DAP3 variants result in a Perrault-syndrome-spectrum phenotype by destabilizing the mitoribosome and impairing mitochondrial translation (PMID: 39701103))