Monogenic hearing loss
Gene: SOX10New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#609136:PCWH syndrome[Deafness, sensorineuralAbsent brainstem auditory responsesEnlarged vestibuleSmall cochleaAbnormally shaped cochlea; Heterochromia iridisBright blue eyesAlacrimaNystagmus; Olfactory bulb agenesisAnosmia; Parotid gland hypoplasia; Hirschsprung disease, long-segmentDecreased myenteric and submucosal ganglia in the bowelIntestinal aganglionosisChronic intestinal pseudoobstruction; Cryptorchidism; Vestibular malformation seen on temporal bone CT (in some patients)Hypoplasia of the semicircular canals; Pes cavus; Hypopigmented skin patches; White forelockWhite eyelashesWhite eyebrows; Developmental delayMental retardationNeonatal hypotoniaDysmyelinationSpastic paraparesisSpastic quadriplegiaAtaxiaNystagmusAutonomic dysregulation; Demyelinating peripheral neuropathyAreflexiaHyporeflexiaDistal muscle wasting due to peripheral neuropathyDistal muscle weakness due to peripheral neuropathyDecreased nerve conduction velocities (NCV)Distal sensory impairmentSural nerve biopsy shows hypomyelination/demyelinationSural nerve biopsy shows excessive focal folding of myelin sheaths]; #611584:Waardenburg syndrome, type 2E, with or without neurologic involvement[Deafness, sensorineuralAbsence of the cochlear nerves (reported in 1 patient)Hypoplasia or agenesis of the semicircular canalsVestibular malformationDilatation of the vestibuleSmall cochleaAbnormally shaped cochlea; Hypopigmented iridesHypoplastic iridesBright blue eyesOcular albinism (reported in 1 patient)Retinal hypopigmentationNystagmus; Absence of the olfactory bulbs (reported in 1 patient)Anosmia (in some patients); Delayed deciduous tooth eruption (reported in 1 patient)Large central incisors (reported in 1 patient)Irregularly placed dentition (reported in 1 patient); Pectus excavatum; Bilateral temporal bone abnormalities; Hypopigmented skin patchesCafe-au-lait spotsFreckles; White forelockWhite eyelashesWhite eyebrowsPremature graying; A subset of patients have neurologic abnormalitiesDelayed psychomotor developmentMental retardationAxial hypotoniaIncreased muscle toneBrain hypomyelinationAbsence of olfactory bulbs (in some patients)]; #613266:Waardenburg syndrome, type 4C[Deafness, sensorineuralHypoplasia or agenesis of the semicircular canalsEnlarged vestibuleSmall cochleaAbnormally shaped cochlea; Heterochromia iridisBright blue iridesLacrimal gland hypoplasia (in some patients); Anosmia (in some patients); Parotid gland hypoplasia (in some patients); Hirschsprung diseaseDecreased myenteric and submucosal ganglia in the bowel; CryptorchidismHypogonadism; Bilateral temporal bone abnormalities; Hypopigmented skin patches; White forelockWhite eyelashesWhite eyebrowsPremature graying; Olfactory bulb agenesis (in some patients)]
Publications
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:59 p.m.
Phenotypes for SOX10 were set to Waardenburg syndrome, type 4C, 613266; #609136:PCWH syndrome; #611584:Waardenburg syndrome, type 2E, with or without neurologic involvement
Publications for SOX10 were set to PMID:10077527; 10441344; 10482261; 10762540; 10942418; 10973953; 10982026; 11026454; 11734543; 12036907; 12189494; 12417529; 12447940; 12668617; 12920301; 15004559; 15294878; 15843399; 16256735; 1636383; 16684879; 17855451; 17999358; 18348267; 18348274; 18397875; 18627047; 19179536; 19208381; 19764030; 19933217; 20308050; 20478267; 21965087; 23643381; 6512238; 8441686; 8911608; 8918474; 8921394; 9027489; 9412504; 9425902; 9462749; 9560246; 9644970; 9722528; 9760192
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SOX10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SOX10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
SOX10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
SOX10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert