Disease relevance of Deafness

• The Jervell and Lange-Nielsen (JLN) syndrome (MIM 220400) is an inherited autosomal recessive disease characterized by a congenital bilateral deafness associated with a QT prolongation on the electrocardiogram, syncopal attacks due to ventricular arrhythmias and a high risk of sudden death [1].
• Loss-of-function mutations in the human KCNQ1 gene have been linked to Jervell and Lange-Nielsen Syndrome (JLNS), a disorder characterized by profound bilateral deafness and a cardiac phenotype [2].
• Here we report on a 4-year-old girl with osteosarcoma of the right distal femur who developed acute bilateral deafness 3 days after a single infusion of high-dose cis-platinum (150 mg/m2) during preoperative chemotherapy [3].
• Routine investigations of 1568 children with severe-profound hearing loss, during a 15 years' period, revealed the following classification: Hereditary Deafness 25%, Acquired Deafness 43% (prenatally 11%, perinatally 16%, postnatally 16%), Unknown Deafness 32% [4].

Psychiatry related information on Deafness

• Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP [5].

High impact information on Deafness

• Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI [6].
• Hypertrophic cardiomyopathy without deaf-mutism was observed in a further 2 cases [7].
• Hypertrophic cardiomyopathy associated with congenital deaf-mutism [7].
• Patients 1 and 2 developed sudden bilateral deafness, soon followed by coma [8].
• Bilateral deafness resulted from high-dose cisplatin combined with gentamicin [9].

Chemical compound and disease context of Deafness

• Use of an amytal interview in the management of factitious deaf mutism [10].

Gene context of Deafness

• The MAPK/JNK signalling pathway offers potential therapeutic targets for the prevention of acquired deafness [11].
• Band keratopathy with bilateral deafness as a presenting sign of hyperparathyroidism [12].
• A 9-year-old girl had congenital deaf-mutism, high-arched palate, complete heterochromia iridis with pigment mottling in the posterior pole of the eye with the hypochromic iris, dyspigmented frontal scalp hair, a history of vitiligo, but with no dystopia canthorum [13].

References