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A Neuron-Like Cellular Model for Severe Tinnitus Associated with Rare Variations in the ANK2 Gene.

Mol Neurobiol

January 2025

Otology & Neurotology Group CTS495, Division of Otolaryngology, Department of Surgery, Instituto de Investigación Biosanitaria, Ibs.GRANADA, Granada, Universidad de Granada, Granada, Spain.

Tinnitus is the perception of sound without an external source, often associated with changes in the auditory pathway and different brain regions. Recent research revealed an overload of missense variants in the ANK2 gene in individuals with severe tinnitus. ANK2, encoding ankyrin-B, regulates axon branching and inhibits microtubule invasion.

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Background: -related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. -related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of genotype and phenotype of VSD has not been established.

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A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.

Genome Med

January 2025

Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.

Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.

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Structural and Dynamic Assessment of Disease-Causing Mutations for the Carnitine Transporter OCTN2.

Mol Inform

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Institute of Pharmaceutical and Medicinal Chemistry, University of Münster, Corrensstr. 48, 48149, Muenster, Germany.

Primary carnitine deficiency (PCD) is a rare autosomal recessive genetic disorder caused by missense mutations in the SLC22A5 gene encoding the organic carnitine transporter novel type 2 (OCTN2). This study investigates the structural consequences of PCD-causing mutations, focusing on the N32S variant. Using an alpha-fold model, molecular dynamics simulations reveal altered interactions and dynamics suggesting potential mechanistic changes in carnitine transport.

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Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in or genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth.

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