DISEASE: Congenital deafness and adult-onset progressive leukoencephalopathy
Entry
H02687 Disease
Name
Congenital deafness and adult-onset progressive leukoencephalopathy
Subgroup
Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID)
Description
Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is a severe neurological and neurosensory disease caused by mutations in KARS. Patients have a combination of early-onset deafness and later-onset neurologic deterioration caused by progressive brain white matter abnormalities. KARS encodes mitochondrial and cytoplasmic lysyl tRNA synthase. It has also been reported that biallelic KARS pathogenic variants cause infantile-onset progressive leukodystrophy (LEPID).
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H02687 Congenital deafness and adult-onset progressive leukoencephalopathy
van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F
Title
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y
Title
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
