DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation. Seizures reported frequently in this condition are often refractory to treatment.
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Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
J Biol Chem
September 2024
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Maryland, USA. Electronic address:
Article Synopsis
- Mutations in the TBC1D24 gene are linked to various conditions like deafness, epilepsy, and DOORS syndrome, but how these mutations lead to different health issues is still unclear.
- Researchers conducted a study to identify new protein partners of TBC1D24 and discovered that it interacts with KIBRA, a scaffold protein involved in cognitive functions and the Hippo signaling pathway.
- Specific mutations in the TLDc domain of TBC1D24 can disrupt its interaction with KIBRA, revealing a potential link between TBC1D24 and epilepsy, suggesting that this interaction is crucial for reducing epilepsy risk.
[Epilepsy syndromes associated with hearing loss].
Zh Nevrol Psikhiatr Im S S Korsakova
February 2023
Federal Center of Brain Research and Neurotechnologies, Moscow, Russia.
Patients with epilepsy who have also hearing loss represent a distinct group of patients, often with aggravated medical history, comorbidities and high potential for disability. The etiopathogenetic factors of epilepsy and hearing loss may be common to these conditions (neuroinfections, craniocerebral injuries, cerebral circulatory disorders, perinatal pathology, etc.).
View Article and Find Full Text PDFAddictive and other mental disorders: a call for a standardized definition of dual disorders.
Transl Psychiatry
October 2022
Office of Science Policy and Communications, National Institute on Drug Abuse, National Institutes of Health, Bethesda, MD, USA.
The persistent difficulty in conceptualizing the relationship between addictive and other mental disorders stands out among the many challenges faced by the field of Psychiatry. The different philosophies and schools of thought about, and the sheer complexity of these highly prevalent clinical conditions make progress inherently difficult, not to mention the profusion of competing and sometimes contradictory terms that unnecessarily exacerbate the challenge. The lack of a standardized term adds confusion, fuels stigma, and contributes to a "wrong door syndrome" that captures the difficulty of not only diagnosing but also treating addictive and other mental disorders in an integrated manner.
View Article and Find Full Text PDFTBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.
Epilepsy Res
May 2022
Department of Pediatrics, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005,China.
Introduction: Disorders associated with mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 gene (TBC1D24) present a wide range of phenotypes, ranging from mild to fatal seizure diseases, non-syndromic deafness, and complex syndromes such as deafness, onychodystrophy, osteodystrophy, and mental retardation(DOOR syndrome). In this study, we introduce three siblings of a previously unreported Chinese family with familial infantile myoclonic epilepsy caused by a homozygous TBC1D24 mutation.
Methods: Genomic DNA was extracted from whole blood of the proband, his parents, and sisters.
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Hum Genet
June 2021
Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.
DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated individuals with DOORS syndrome without deafness. Exome sequencing revealed a homozygous missense variant in PIGF (NM_173074.
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