Monogenic hearing loss

Gene: LARGE1

added new-gene-name tag

Created: 9 Dec 2016, 3:32 p.m.

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#608840:Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6[Short stature; Facial weakness, mild; Nystagmus, horizontalDecreased electroretinogram (ERG) response; Tongue hypertrophy; Elbow contractures, mildAchilles tendon contractures, mild; Flexed fingers; HypotoniaMuscle weakness, predominantly proximalLower limbs more affected than upper limbsDelayed motor developmentAcquire ability to walk and jump in childhood, but motor regression occurs laterMuscle hypertrophyEMG shows myopathic changesDecreased glycosylation of alpha-dystroglycan; Developmental delay, globalMental retardation, moderate to profoundLower limb hyperreflexia (reported in 1 patient)Extensor plantar responses (reported in 1 patient)Periventricular white matter changesAbnormal neuronal migrationHypoplastic brainstemPachygyria, frontoparietalCerebellar hypoplasia; Increased serum creatine kinase]; #613154:Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6[Retinal dysplasiaOptic atrophyCataract; Contractures; Widened anterior fontanelles; Hypotonia, severeMuscular dystrophyMuscle biopsy shows decreased glycosylation of alpha-dystroglycan (DAG1,); Mental retardationAreflexiaCobblestone lissencephalyVentricular dilatationAbsence of the cerebellar vermisHypoplasia of the cerebellumDysplastic cerebellumHydrocephalusWhite matter changesPontine hypoplasiaDandy-Walker malformation (in 1 of 4 patients); Increased serum creatine kinase]

Publications

• PMID:11381262
• 12140558
• 12354792
• 12966029
• 15184894
• 15210115
• 15371584
• 15661757
• 17436019
• 17943131
• 19067344
• 19299310
• 21248746
• 22223806
• 24132234
• 9892679