The ring 14 syndrome

Zollino, Marcella; Ponzi, Emanuela; Gobbi, Giuseppe; Neri, Giovanni

doi:10.1016/j.ejmg.2012.03.009

Cited by 33 publications

(41 citation statements)

References 18 publications

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“…We believe that it should be considered as a separate entity with its own peculiar characteristics. We confirm that no characteristic seizure pattern and interictal or ictal EEG findings are evident in r (14) patients as recently pointed out [31]. However, regarding clinical evolution, the recurrence of three successive stages has been proposed: during stage 1, seizures are frequently in clusters; during stage 2, seizures tend to remain stable and cognitive and motor delay become evident; and during stage 3, epilepsy tends to be less severe [31].…”

Section: Discussionsupporting

confidence: 84%

“…On the other hand, abnormalities of genes proximally located on 14q11q13 may determine seizures, ocular anomalies, and also microcephaly [31]. A constant finding in patients with r (14) chromosome is the loss of genetic material.…”

Section: Discussionmentioning

confidence: 96%

“…A constant finding in patients with r (14) chromosome is the loss of genetic material. According to Zollino [31], genes residing in the proximal 14q interval are dysregulated through heterochromatinization spreading from the adjacent short arm of the chromosome, and, therefore, molecular studies should be performed in order to identify putative epilepsy genes.…”

Section: Discussionmentioning

confidence: 99%

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Epilepsy in ring 14 chromosome syndrome

Specchio

Trivisano

Serino

et al. 2012

Epilepsy & Behavior

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Epilepsy in ring 14 chromosome syndrome

Specchio

Trivisano

Serino

et al. 2012

Epilepsy & Behavior

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“…The nose usually has a flattened root and bulbous tip and the philtrum may be elongated. The ears may be low-set and the mouth is small with very thin vermillion borders, and downturned corners [32]. All these features have been reported only in patients with r(14) syndrome carrying a long arm terminal deletion of at least 650 kb.…”

Section: Symptoms and Major Complicationsmentioning

confidence: 99%

“…Recurring features include postnatal-onset microcephaly, hypotonia, scoliosis and increased incidence of infections, particularly respiratory infections, which may require hospitalization [32, 36]. A susceptibility to infections was also observed in patients with linear deletions, suggesting that the phenomenon is due primarily to haploinsufficiency as the distal region of 14q contains the genes for heavy chains of antibodies [21, 37].…”

Section: Symptoms and Major Complicationsmentioning

confidence: 99%

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Rinaldi

Vaisfeld

Amarri

et al. 2017

Orphanet J Rare Dis

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BackgroundRing chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues.ResultsThe aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.ConclusionConventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.

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Ring 18 molecular assessment and clinical consequences

Carter

Heard

Hasi

et al. 2014

American J of Med Genetics Pt A

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Ring chromosome 18 is a rare condition which has predominantly been described by case reports and small case series. We assessed a cohort of 30 individuals with ring 18 using both microarray comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH). We determined that each participant had a unique combination of hemizygosity for the p and q arms. Four ring chromosomes had no detectable deletion of one of the chromosome arms using aCGH. However, two of these ring chromosomes had telomeric sequences detected using FISH. These data confirm the importance of molecular and cytogenetic analysis to determine both chromosome content and morphology. We failed to find dramatic changes in mosaicism percentage between cytogenetic measurements made at the time of diagnosis and those made years later at the time of this study, demonstrating that dynamic ring mosaicism is unlikely to be a major cause of phenotypic variability in the ring 18 population. Lastly, we present data on the clinical features present in our cohort, though the extreme genotypic variability makes it impossible to draw direct genotype-phenotype correlations. Future work will focus on determining the role of specific hemizygous genes in order to create individualized projections of the effect of each person's specific ring 18 compliment.

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The ring 14 syndrome

Cited by 33 publications

References 18 publications

Epilepsy in ring 14 chromosome syndrome

Epilepsy in ring 14 chromosome syndrome

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Ring 18 molecular assessment and clinical consequences

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