SOX10 mutations mimic isolated hearing loss.

[kallmann syndrome]

Ninety genes have been identified to date that are involved in non-syndromic hearing loss , and more than 300 different forms of syndromic hearing impairment have been described . Mutations in SOX 10 , one of the genes contributing to syndromic hearing loss , induce a large range of phenotypes , including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness . In addition , rare mutations have been identified in patients with isolated signs of these diseases . We used the recent characterization of temporal bone imaging aspects in patients with SOX 10 mutations to identify possible patients with isolated hearing loss due to SOX 10 mutation . We selected 21 patients with isolated deafness and temporal bone morphological defects for mutational screening . We identified two SOX 10 mutations and found that both resulted in a non-functional protein in vitro . Re-evaluation of the two affected patients showed that both had previously undiagnosed olfactory defects . Diagnosis of anosmia or hyposmia in young children is challenging , and particularly in the absence of magnetic resonance imaging (MRI ), SOX 10 mutations can mimic non-syndromic hearing impairment . MRI should complete temporal bones computed tomographic scan in the management of congenital deafness as it can detect brain anomalies , cochlear nerve defects , and olfactory bulb malformation in addition to inner ear malformations .

Diseases
Validation

Diseases presenting "hearing impairment" symptom

22q11.2 deletion syndrome

achondroplasia

benign recurrent intrahepatic cholestasis

canavan disease

congenital diaphragmatic hernia

dentinogenesis imperfecta

hirschsprung disease

kabuki syndrome

kallmann syndrome

monosomy 21

oligodontia

pendred syndrome

zellweger syndrome

This symptom has already been validated