Abstract
The ring 14 syndrome is a rare condition caused by the rearrangement of one chromosome 14 into a ring-like structure. The formation of the ring requires two breakpoints and loss of material from the short and long arms of the chromosome. Like many other chromosome syndromes, it is characterized by multiple congenital anomalies and developmental delays. Typical of the condition are retinal anomalies and drug-resistant epilepsy. These latter manifestations are not found in individuals who are carriers of comparable 14q deletions without formation of a ring (linear deletions). To find an explanation for this apparent discrepancy and gain insight into the mechanisms leading to seizures, we reviewed and compared literature cases of both ring and linear deletion syndrome with respect to both their clinical manifestations and the role and function of potentially epileptogenic genes. Knowledge of the epilepsy-related genes in chromosome 14 is an important premise for the search of new and effective drugs to combat seizures. Current clinical and molecular evidence is not sufficient to explain the known discrepancies between ring and linear deletions.
Keywords:
Ring14 syndrome; epilepsy-related genes; pharmacoresistant seizures.
© 2020 International League Against Epilepsy.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Carrier Proteins / genetics
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Chromosome Deletion*
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Chromosomes, Human, Pair 14 / genetics*
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Craniofacial Abnormalities / complications
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Craniofacial Abnormalities / genetics*
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Cytoplasmic Dyneins / genetics
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DEAD-box RNA Helicases / genetics
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DNA-Binding Proteins / genetics
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Drug Resistant Epilepsy / complications
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Drug Resistant Epilepsy / genetics
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Epilepsy / complications
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Epilepsy / genetics*
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Eye Abnormalities / complications
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Eye Abnormalities / genetics*
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Forkhead Transcription Factors / genetics
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Humans
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Intellectual Disability / complications
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Intellectual Disability / genetics*
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Microcephaly / complications
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Microcephaly / genetics
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Mutation, Missense
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Nerve Tissue Proteins / genetics
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Nuclear Proteins / genetics
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Otx Transcription Factors / genetics
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Phenotype
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Presenilin-1 / genetics
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Retina / abnormalities
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Ribonuclease III / genetics
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Ring Chromosomes
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Transcription Factors / genetics
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Vesicular Transport Proteins / genetics
Substances
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CHD8 protein, human
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Carrier Proteins
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DNA-Binding Proteins
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DYNC1H1 protein, human
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FOXG1 protein, human
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Forkhead Transcription Factors
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IRF2BPL protein, human
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Nerve Tissue Proteins
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Nuclear Proteins
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OTX2 protein, human
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Otx Transcription Factors
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PACS2 protein, human
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PSEN1 protein, human
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Presenilin-1
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Transcription Factors
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Vesicular Transport Proteins
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DICER1 protein, human
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Ribonuclease III
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DEAD-box RNA Helicases
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Cytoplasmic Dyneins
Supplementary concepts
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Ring Chromosome 14 Syndrome