Sinoatrial node dysfunction and deafness (SANDD) is a genetic disease characterized by a low heart beat and severe-to-profound deafness. A mutation of CACNA1D, encoding the Cav1.3 protein, has been identified in families with SANDD.
Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM
タイトル
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nurnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nurnberg P, Striessnig J, Bolz HJ
タイトル
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
