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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessPerrault syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Perrault syndrome containing 5 core candidate genes and altogether 15 curated genes according to the clinical signs

ID
PP0530
Number of genes
12 Accredited laboratory test
Examined sequence length
9,4 kb (Core-/Core-canditate-Genes)
21,8 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-GReferenz-Seq.Heredity
CLPP834NM_006012.4AR
HARS21521NM_012208.4AR
HSD17B42211NM_000414.4AR
LARS22712NM_015340.4AR
TWNK2055NM_021830.5AR
BMP151179NM_005448.2AR
CLDN14720NM_144492.3AR
ERAL11324NM_005702.4AR
FMR11899NM_002024.6XL
FSHR2088NM_000145.4AR
RMND11350NM_017909.4AR
SGO23854NM_001160033.1AR

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.
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined