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journal article Nov 17, 2020

Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma

Alessandro Vaisfeld ORCID Serena Spartano ORCID Giuseppe Gobbi Annamaria Vezzani ORCID Giovanni Neri ORCID
Epilepsia Vol. 62 No. 1 pp. 25-40 · Wiley
View at Publisher Save 10.1111/epi.16754
Abstract
AbstractThe 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.
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References
73
[2]
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri et al.

Orphanet Journal of Rare Diseases 2017 10.1186/s13023-017-0606-4
[5]
Olson HE "A recurrent de novo PACS2 heterozygous missense variant causes neonatal‐onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis" Am J Hum Genet (2018) 10.1016/j.ajhg.2018.09.002
[13]
Martínez‐Frías ML "Interstitial deletion 14q22.3‐q23.2: genotype‐phenotype correlation" Am J Med Genet A (2014) 10.1002/ajmg.a.36330
[14]
Pichiecchio A "New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review" BMC Med Genomics (2018) 10.1186/s12920-018-0405-3
[15]
Riegel M "Interstitial 14q24.3 to q31.3 deletion in a 6‐year‐old boy with a non‐specific dysmorphic phenotype" Mol Cytogenet (2014) 10.1186/s13039-014-0077-4
[16]
Nicita F "Neurological features of 14q24‐q32 interstitial deletion: report of a new case" Mol Cytogenet (2015) 10.1186/s13039-015-0196-6
[17]
Turleau C "Two patients with interstitial del (14q), one with features of Holt‐Oram syndrome. Exclusion mapping of PI (alpha‐1‐antitrypsin)" Ann Genet (1984)
[19]
van Engelen K "DICER1 syndrome: approach to testing and management at a large pediatric tertiary care center" Pediatr Blood Cancer (2018) 10.1002/pbc.26720
[22]
Karnebeek CD "Further delineation of the chromosome 14q terminal deletion syndrome" Am J Med Genet (2002) 10.1002/ajmg.10207
[23]
Schlade‐Bartusiak K "FISH‐mapping of telomeric 14q32 deletions: search for the cause of seizures" Am J Med Genet A (2005) 10.1002/ajmg.a.30942
[24]
Maurin M‐L "Terminal 14q32.33 deletion: genotype‐phenotype correlation" Am J Med Genet A (2006) 10.1002/ajmg.a.31438
[25]
Schlade‐Bartusiak K "A child with deletion (14)(q24.3q32.13) and auditory neuropathy" Am J Med Genet A (2008) 10.1002/ajmg.a.32064
[28]
Cheon CK "14q32.33 Deletion Identified by array‐CGH in a 5‐year old‐girl with Seizure" J Genet Med (2011) 10.5734/jgm.2011.8.1.62
[37]
Database resources of the National Center for Biotechnology Information

Richa Agarwala, T. Barrett, Jeff Beck et al.

Nucleic Acids Research 10.1093/nar/gkx1095
[39]
Vezzani A "Neuroinflammatory pathways as treatment targets and biomarkers in epilepsy" Nat Rev Neurol (2019) 10.1038/s41582-019-0217-x
[43]
Hall AM "The role of Sirt1 in epileptogenesis" eNeuro (2017)
[44]
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

J. Piñero, Àlex Bravo, Nuria Queralt-Rosinach et al.

Nucleic Acids Research 2017 10.1093/nar/gkw943
[46]
Xu Q "Autism‐associated CHD8 deficiency impairs axon development and migration of cortical neurons" Mol Autism (2018) 10.1186/s13229-018-0244-2
[47]
Wade AA "Common CHD8 genomic targets contrast with model‐specific transcriptional impacts of CHD8 haploinsufficiency" Front Mol Neurosci (2019) 10.3389/fnmol.2018.00481
[48]
Barnard RA "Mutations and modeling of the chromatin remodeler CHD8 define an emerging autism etiology" Front Neurosci (2015)

Showing 50 of 73 references

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16
Citations
73
References
Details
Published
Nov 17, 2020
Vol/Issue
62(1)
Pages
25-40
License
View
Authors
A
Alessandro Vaisfeld

Institute of Genomic Medicine Catholic University School of Medicine Rome Italy

S
Serena Spartano

Institute of Genomic Medicine Catholic University School of Medicine Rome Italy

G
Giuseppe Gobbi

Residential Center for Rehabilitation Luce Sul Mare Rimini Italy

A
Annamaria Vezzani

Department of Neuroscience IRCCS‐Istituto di Ricerche Farmacologiche Mario Negri Milano Italy

G
Giovanni Neri

Institute of Genomic Medicine Catholic University School of Medicine Rome Italy; J.C. Self Research Institute Greenwood Genetic Center Greenwood SC USA

Cite This Article
Alessandro Vaisfeld, Serena Spartano, Giuseppe Gobbi, et al. (2020). Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma. Epilepsia, 62(1), 25-40. https://doi.org/10.1111/epi.16754
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