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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPerrault syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Perrault syndrome comprising 5 or altogether 16 curated genes according to the clinical signs

ID
PP0530
Number of genes
9 Accredited laboratory test
Examined sequence length
9,4 kb (Core-/Core-canditate-Genes)
16,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CLPP834AR
HARS21521AR
HSD17B42211AR
LARS22712AR
TWNK2055AD, AR
CLDN14720AR
ERAL11324AR
RMND11350AR
SGO23854AR

Informations about the disease

Clinical Comment

Association of ovarian dysgenesis in females with sensorineural hearing impairment, at times with neurologic abnormalities, notably progressive cerebellar ataxia + intellectual deficit

 

Synonyms
  • Alias: Ovarian dysgenesis with sensorineural deafness
  • Allelic: D-bifunctional protein deficiency (HSD17B4)
  • Allelic: Fragile X syndrome (FMR1_CCG)
  • Allelic: Fragile X tremor/ataxia syndrome (FMR1_CCG)
  • Allelic: Hydrops, lactic acidosis + sideroblastic anemia (LARS2)
  • Allelic: Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
  • Allelic: Ovarian hyperstimulation syndrome (FSHR)
  • Allelic: Ovarian response to FSH stimulation (FSHR)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Allelic: Spermatogenic failure 32 (SOHLH1)
  • Combined oxidative phosphorylation deficiency 11 (RMND1)
  • Deafness, AR 29 (CLDN14)
  • Ovarian dysgenesis 1 (FSHR)
  • Ovarian dysgenesis 2 (BMP15)
  • Ovarian dysgenesis 3 (PSMC3IP)
  • Ovarian dysgenesis 4 (MCM9)
  • Ovarian dysgenesis 5 (SOHLH1)
  • Perrault syndrome 1 (HSD17B4)
  • Perrault syndrome 2 (HARS2)
  • Perrault syndrome 3 (CLPP)
  • Perrault syndrome 4 (LARS2)
  • Perrault syndrome 5 (TWNK)
  • Perrault syndrome 6 (ERAL1)
  • Perrault syndrome [panelapp] (SGO2)
  • Premature ovarian failure 1 (FMR1_CCG)
  • Premature ovarian failure 4 (BMP15)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined