Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.

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Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.

Eur J Paediatr Neurol. 2015 Mar;19(2):251-6

Authors: Stražišar BG, Neubauer D, Paro Panjan D, Writzl K

Abstract
BACKGROUND: Recent studies have shown that recessive mutations in the TBC1D24 gene cause a variety of epilepsy syndromes, DOORS syndrome and nonsyndromic deafness.
METHODS/RESULTS: We report on two siblings with hypotonia, early-onset epileptic encephalopathy, and severe developmental delay. The patients presented with clonic and myoclonic jerks within 1 h after birth. The seizures were resistant to treatment. Audiologic examination showed bilateral sensorineural hearing loss in both siblings. Genetic analysis revealed compound heterozygous mutations in the TBC1D24 gene: a novel missense mutation c.32A > G (p.Asp11Gly) in exon 2 and a frameshift mutation c.1008delT (p.His336Glnfs*12) in exon 4.
CONCLUSION: This report supports previous observations that mutations in TBC1D24 cause diverse phenotypes. In fact, early-onset epileptic encephalopathy with sensorineural hearing loss is an additional phenotype observed in patients with recessive TBC1D24 mutations.

PMID: 25557349 [PubMed - indexed for MEDLINE]

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