Monogenic hearing loss

Gene: CACNA1D

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#614896:Sinoatrial node dysfunction and deafness[Deafness, congenital sensorineural, severe to profound; Sinoatrial node dysfunctionBradycardiaSyncopal episodes; Caused by mutation in the alpha-1D subunit of the L-type voltage-dependent calcium channel gene (CACNA1D,)]; #615474:Primary aldosteronism, seizures, and neurologic abnormalities[Cortical blindness (in one patient); Left ventricular hypertrophyBiventricular hypertrophy (in one patient)Ventricular septal defect (in one patient)Patent foramen ovale (in one patient)Second-degree heart block (in one patient); Hypertension, neonatalPulmonary artery hypertension (in one patient); Renal stones (in one patient); Global developmental delaySeizures, generalized tonic-clonicSeizures, myoclonicSeizures, complex partialCerebral palsySpastic quadriplegia (in one patient)Athetosis, mild (in one patient); Movement disorder; Verbal outbursts (in one patient); Metabolic alkalosis; Elevated aldosteroneHigh aldosterone/renin ratioLow plasma renin activity; Hypokalemia]

Publications

• PMID:10611367
• 10929716
• 11441182
• 11875398
• 1309651
• 1309948
• 1324226
• 1659003
• 1664412
• 1849233
• 20139964
• 21131953
• 23913001
• 23913004