[MIM 233 400, 614 926]

Very rare: < 1/1,000,000. Probably autosomal recessive transmission. Biallelic, homozygous or heterozygous composite mutations in 8 genes have been identified, but molecular biology is inconclusive in half of patients.

A distinction is made between

-        type 1 [MIM 233 400], mutation of the HSD17B4 gene (5q23.1)

-        type 2 [MIM 614 926], mutation of the HARS2 gene (5q31)

-        type 3 [MIM 614 129], mutation of the CLPP gene (19p13)

-        type 4 [MIM 615 300], mutation of the LARS2 gene (3p21)

-        type 5 [MIM 616 138], mutation of the TWNK gene (10q24): neurological signs are constant

-        type 6 [MIM 617 565], mutation of the ERAL1 gene (17q11)

-        type 7 [MIM 621 101], mutation of the DAP3 gene (1q22).

Other pathologies can also present with a phenotype similar to Perrault syndrome:

-        combined oxidative phosphorylation deficiency -54 (COXPD54) [MIM 619 737], a mitochondrial cytopathy due to a mutation in the PRORP gene (14q13.2)

-        mutations of the GGSP1 gene (1q42.3) [MIM 619 518], coding for a geranylgeranyl diphosphate synthase, where muscular dystrophy is associated with ovarian dystrophy and deafness

-        mutations of the RMND1 gene (6q25.1) [MIM 614 922].

Association of

-        ovarian dysgenesis in women (gonadal dysgenesis is not present in men): diagnosis is made around the age of 20, when primary (or, more rarely, secondary) amenorrhea is diagnosed.

-        sensorineural deafness: generally bilateral, prelingual and asymmetrical, and its severity is variable (mild to profound); diagnosis usually around age 7.

And sometimes :

-        neurological disorders: progressive cerebellar ataxia, dyspraxia, sensory or sensitivomotor polyneuropathy, and rarely, developmental delay

-        short stature: < P3 in 50 % of cases.

Differential diagnosis: Turner syndrome (XO).

Anesthetic implications:

according to the associated neurological disorders

References : 

Updated: May 2025