IllnessPerrault syndrome, differential diagnosis
Summary
Comprehensive differential diagnostic panel for Perrault syndrome containing 5 core candidate genes and altogether 15 curated genes according to the clinical signs
The FSHR polymorphism p.Asn680Ser may be relevant with regard to dose calculation prior to ovarian stimulation and is therefore reported if explicitly requested. doi: 10.1007/s00129-021-04785-6
21,8 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
CLPP | 834 | NM_006012.4 | AR | |
HARS2 | 1521 | NM_012208.4 | AR | |
HSD17B4 | 2211 | NM_000414.4 | AR | |
LARS2 | 2712 | NM_015340.4 | AR | |
TWNK | 2055 | NM_021830.5 | AR | |
BMP15 | 1179 | NM_005448.2 | AR | |
CLDN14 | 720 | NM_144492.3 | AR | |
ERAL1 | 1324 | NM_005702.4 | AR | |
FMR1 | 1899 | NM_002024.6 | XL | |
FSHR | 2088 | NM_000145.4 | AR | |
RMND1 | 1350 | NM_017909.4 | AR | |
SGO2 | 3854 | NM_001160033.1 | AR |
Informations about the disease
Association of ovarian dysgenesis in females with sensorineural hearing impairment, at times with neurologic abnormalities, notably progressive cerebellar ataxia + intellectual deficit
The FSHR polymorphism p.Asn680Ser may be relevant with regard to dose calculation prior to ovarian stimulation and is therefore reported if explicitly requested. doi: 10.1007/s00129-021-04785-6
- 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)
- AR
- XL
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined