Monogenic hearing loss

Gene: NEU1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#256550:Sialidosis, type II[Short stature (type II, infantile and juvenile); Coarse facies (type II, all types)Facial edema (type II, congenital); Hearing loss, sensorineural (type II); Vision loss, progressive (type I)Nystagmus (type I)Cherry-red spot (type II, infantile and juvenile and type I)Lens opacities (type II, infantile and juvenile); Cardiomegaly (type II, infantile)Cardiomyopathy (type II, congenital); Neonatal ascites (type II, congenital); Hepatomegaly (type II, all subtypes); Splenomegaly (type II, all subtypes); Inguinal hernia (type II, congenital); Dysostosis multiplex (type II, all types); Epiphyseal stippling (type II, congenital)Periosteal cloaking (type II, congenital); Muscle weakness (type I)Muscle atrophy (type I); Ataxia (type I and type II, infantile and juvenile)Seizures (type I and type II, juvenile)Mental retardation, moderate to severe (type II, infantile and juvenile)Myoclonus (type I and type II, infantile and juvenile)Dysmetria (type I)Hypotonia (type I and type II, infantile)Hyperreflexia (type I); Slurred speech (type I); Vacuolated lymphocytes (type II)Bone marrow foam cells (type II); Hydrops fetalis (type II, congenital); Still birth; Proteinuria (type II, congenital)Increased urinary sialyloligosaccharidesIncreased urinary sialylglycopeptidesNeuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)]

Publications

• PMID:10767332
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