Perrault Syndrome 2

General Information (adopted from Orphanet):

Synonyms, Signs: PRLTS2
PRLTS type-2 [IBIS]
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614926
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
25956234 [IBIS]
Age of onset: Childhood
Adolescent
Adult
25956234 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Perrault Syndrome
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease
 -Rare urogenital disease

Comment:

Perrault Syndrome 2 (PRLTS2) is a subtype / child of Perrault Syndrome. Mutations in the mitochondrial histidyl-tRNA synthetase (HARS2, OMIM 600783) gene on chromosome 5q31.3 cause PRLTS2 because of the reduction of HARS2 enzyme activity, which leads to defective mitochondrial protein synthesis and results in mammalian gonadal dysgenesis (PMID:25956234).

Symptom Information: Sort by abundance 

1
 (HPO:0000133) Gonadal dysgenesis Very frequent [IBIS] 25956234 IBIS 21 / 7739
2
 (HPO:0000141) Amenorrhea Very frequent [IBIS] 21464306 IBIS 16 / 7739
3
 (HPO:0008209) Premature ovarian failure Very frequent [IBIS] 25956234 IBIS 28 / 7739
4
 (HPO:0001587) Primary ovarian failure Very frequent [IBIS] 26970254 IBIS 9 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment Very frequent [IBIS] 100% (n=5) 21464306 IBIS 524 / 7739
6
 (OMIM) Ovarian dysgenesis Very frequent [IBIS] 25956234 IBIS 7 / 7739
7
 (OMIM) Streak gonads 21464306 IBIS 3 / 7739

Associated genes:

HARS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by Pierce ...
Clinical Description OMIM Pallister and Opitz (1979) reported 3 sisters with ovarian dysgenesis and moderate to severe sensorineural deafness. The proband was a 13-year-old girl who lacked pubertal development and was found to have moderately severe hearing loss at age 3. ...
Molecular genetics OMIM In affected members of a family of European descent with Perrault syndrome originally reported by Pallister and Opitz (1979), Pierce et al. (2011) identified compound heterozygosity for 2 mutations in the HARS2 gene (600783.0001 and 600783.0002). The mutations ...