Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.

Objective: Mutations in the MTRNR1 gene of mitochondrial DNA are associated with non-syndromic hearing loss and increased susceptibility to aminoglycoside ototoxicity. The aim of our study was to determine the clinical characteristics of sensorineural hearing loss caused by the m.1555A>G mutation in MTRNR1.

Radixin modulates the function of outer hair cell stereocilia.

The stereocilia of the inner ear sensory cells contain the actin-binding protein radixin, encoded by RDX. Radixin is important for hearing but remains functionally obscure. To determine how radixin influences hearing sensitivity, we used a custom rapid imaging technique to visualize stereocilia motion while measuring electrical potential amplitudes during acoustic stimulation.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic.

Adverse effects of hexaclorobenzene exposure in children and adolescents.

Background: Hexachlorobenzene (HCB: C₆Cl₆) is a persistent, bioaccumulative chemical formerly used worldwide in pesticide mixtures but also produced as a by-product in the chemical and metallurgical industry. Despite current international restrictions in the use and production of HCB, the majority of the general population still show detectable levels of HCB, which raises concerns on the potential health implications of the exposure.

Objective: To compile and synthesize the available scientific evidence regarding the adverse effects of exposure to HCB in children and adolescents.

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.

Background: Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum pellucidum and corpus callosum dysgenesis. The variable presentation of SOD includes visual, neurologic, and/or hypothalamic-pituitary endocrine defects. The unclear aetiology of a large proportion of SOD cases underscores the importance of identifying novel SOD-associated genes.