Monogenic hearing loss
Gene: HSD17B4New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#233400:Perrault syndrome 1[Growth retardation; Hearing loss, sensorineural; NystagmusLimited extraocular movements; High-arched palate; Immature genitalia; Ovarian dysgenesisSmall ovariesLack of ovariesStreak gonads; Scoliosis; Pes cavusPes equinovarus; Weakness of the lower limbs; Delayed motor development (in some patients)Cognitive impairment (in some patients)Ataxic gait (in some patients)Spastic diplegia (in some patients)Dysarthria (in some patients)Cognitive impairment (in some patients)Cerebellar atrophy (in some patients); Sensorimotor demyelinating or axonal peripheral neuropathy (in some patients)Hyporeflexia (in some patients)Areflexia (in some patients); Amenorrhea, primaryIncreased gonadotropin levelsLow estradiol; Decreased beta-oxidation of pristanic acid]; #261515:D-bifunctional protein deficiency[Failure to thrive (44% of patients); MacrocephalyScaphocephalyLarge fontanellesDelayed closure of the fontanelles; Facial dysmorphism (68%)Frontal bossingHigh foreheadMicrognathiaRetrognathiaLong philtrum; Low-set earsLoss of hearing (45%); Upslanting palpebral fissuresEpicanthal foldsHypertelorismVisual impairment (55%)NystagmusStrabismusFailure to fixate on objectsLoss of vision (34%)Abolished electroretinogram (ERG) (76%); Depressed nasal bridge; High-arched palate; Funnel chestLong, small thorax; Abnormal liver function (26%)Hepatomegaly (43%)Histology shows normal numbers of peroxisomes (84%)Abnormal peroxisomes (53%)Absence of peroxisomes (16%)Cholestasis (9%)Steatosis (22%)Fibrosis (22%)Hemosiderosis (13%)Proliferation of bile canaliculi (9%); Poor feeding; Renal cysts (33%)Adrenal cortex atrophy (42%); Generalized osteopeniaDelayed bone maturationCalcific stippling; Claw hands; Talipes equinovarusHammertoes; Decreased muscle mass; Hypotonia, neonatal (> 90%)Seizures (> 90%)Delayed psychomotor development, severe (> 90%)Polymicrogyria (64%)Ventricular dilatation (29%)White matter dysmyelination/demyelination (71%)Neocortical dysplasia (27%)Hypoplastic/atrophic corpus callosum (55%)Heterotopic neurons in the white matter (36%)Generalized cerebral hypoplasia/atrophy (45%)Cerebellar hypoplasia/atrophy (27%)Gliosis (27%); Delayed peripheral nerve motor conduction velocities (67%); Adrenocortical insufficiency (uncommon); PolyhydramniosFetal ascites; Increased plasma levels of very long-chain fatty acids (VLCFA)Increased plasma levels of bile acid intermediatesDecreased peroxisomal fatty acid beta-oxidationDecreased or absent D-bifunctional protein activity and proteinNormal serum plasmalogen]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:36 p.m.
can present as non-syndromic HLCreated: 19 Oct 2015, 7:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for HSD17B4 were set to hearing loss; D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400
Publications for HSD17B4 were set to PMID:10199776; 10400999; 10748062; 11743515; 11992265; 15216544; 16385454; 180535; 20673864; 23181892; 24553428; 2868085; 2882519; 2921319; 4061497; 7487879; 8279468; 8621399; 8902629; 8938456; 9089413; 9133619; 9197465; 9345094; 9482850; 9880674; 9915948
Mode of inheritance for HSD17B4 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
HSD17B4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
HSD17B4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
HSD17B4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
HSD17B4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert