Barbara Gnidovec Stražišar1, David Neubauer1, Darja Paro Panjan2, Karin Writzl3. 1. Department of Child, Adolescent & Developmental Neurology, University Children's Hospital, Ljubljana, Slovenia. 2. Department of Neonatology, University Children's Hospital, Ljubljana, Slovenia. 3. Institute of Medical Genetics, University Medical Centre, Ljubljana, Slovenia. Electronic address: karinwritzl@gmail.com.
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.
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 epilepticencephalopathy, 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 epilepticencephalopathy with sensorineural hearing loss is an additional phenotype observed in patients with recessive TBC1D24 mutations.
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