Monogenic hearing loss

Gene: SOX10

New review confirms gene status and mode of inheritance; no changes required.

Created: 1 Jun 2018, 2:41 p.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Green List (high evidence)

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

• 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

Comment on list classification: Good evidence from expert reviewer and OMIM

Created: 31 Jan 2016, 7:59 p.m.