Vici Syndrome Associated With Sensorineural Hearing Loss and Laryngomalacia

Role ofEpg5in selective neurodegeneration and Vici syndrome

“…20 Vici syndrome is a recessively inherited multisystem disorder, characterized by agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataracts, cleft lip and palate, hypotonia and combined immunodeficiency. 21 Since the original report, nine other papers have described patients with Vici syndrome, [22][23][24][25][26][27][28][29][30] confirming it as a distinct clinical entity.…”

“…All reported patients have postnatal growth retardation, developmental delay and severe psychomotor delay, and most of them die before the age of 3. [21][22][23][24][25][26][27][28][29][30] In contrast, Epg5 knockout mice grow normally into sexually mature adults. Neurological defects gradually worsen from 4 mo of age, but the animals still survive to 10-12 mo.…”

“…Neurological defects gradually worsen from 4 mo of age, but the animals still survive to 10-12 mo. Facial dysmorphism, including cleft lip and palate, high-arched palate, and micrognathia have been reported in most cases of Vici syndrome, [21][22][23][24][26][27][28][29][30] but these abnormalities are absent in Epg5 knockout mice. Cataract is another common trait of Vici syndrome that is not obviously detected in Epg5 knockout mice (Fig.…”

Clinical utility gene card for: Vici Syndrome

“…1,[3][4][5][6][7][8][9][10][11][12] However, a proportion of cases are probably either undiagnosed or unreported, suggesting that this figure provides an underestimate of the actual frequency. Vici syndrome has been found in equal frequencies in the different ethnic groups studied.…”

Autophagy and human diseases

“…Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, psychomotor retardation, and immunodeficiency with cleft lip and palate [28][29][30][31].…”