Perrault syndrome (MIM
233400) is an autosomal recessive disorder that is clinically and genetically
heterogeneous and characterized by hearing loss in males and females and
premature ovarian failure (POF) (for a review, see Jenkinson et al., 2012, J.
Neurology 259, 974-976).
*Affected males would be
categorized as having nonsyndromic deafness. In the case of mutations of CLPP, one of three mutant alleles
(c.270+4A>G) is a leaky splice site mutation and appears to only cause
nonsyndromic deafness DFNB81 in females as well, although clinical data for the
family segregating c.270+4A>G was sparse (Jenkinson et al., 2013).