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

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

Name	Exon Length (bp)	OMIM-G	Heredity
CLPP	834	601119	AR
HARS2	1521	600783	AR
HSD17B4	2211	601860	AR
LARS2	2712	604544	AR
TWNK	2055	606075	AD, AR
CLDN14	720	605608	AR
ERAL1	1324	607435	AR
RMND1	1350	614917	AR
SGO2	3854	612425	AR

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q87.-

Bioinformatics and clinical interpretation

No text defined