Transmission of ring 14 chromosome from mother to two sons

Matalon, Reuben; Supple, Peggy; Wyandt, Herman E.; Rosenthal, Ira M.

doi:10.1002/ajmg.1320360402

Cited by 13 publications

(18 citation statements)

References 12 publications

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“…Our literature review identified several cases with characteristics in common with the four cases reported here. 4,8,10,11,13 Data are summarized in Table I.…”

Section: Discussionmentioning

confidence: 99%

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Ville¹,

Bellescize²,

Nguyen³

et al. 2009

Develop Med Child Neuro

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We report four infants (two males, two females) with ring 14 chromosome presenting with early‐onset partial epilepsy. The first seizure occurred between 3 and 6 months (3, 3, 4, and 6mo respectively). In all four cases, diagnosis was based on early focal seizures, rather than on psychomotor retardation or morphological features, which were not prominent at seizure onset. Moreover, despite the young age of the patients and the high frequency of seizures, neither epileptic spasms nor progression to ‘epileptic encephalopathy’, such as hypsarrhythmia, were observed. Epilepsy remained partial in these patients. At the most recent follow‐up, all four children had slight or mild psychomotor delay, and two of them had moderate non‐specific dysmorphic traits. Data from the literature about epilepsy in ring 14 chromosome syndrome were also reviewed. Ring 14 chromosome syndrome may be revealed by isolated, early‐onset focal epilepsy suggestive of focal lesions with only mild mental retardation and morphological features at the time of diagnosis. The characteristics of these observations differ from classic ring 14 syndrome, and may enlarge this clinical spectrum. Many unanswered questions remain concerning phenotype–genotype correlation and identification of the potential genes and molecular mechanisms responsible for epilepsy in patients with ring 14 syndrome.

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“…Our literature review identified several cases with characteristics in common with the four cases reported here. 4,8,10,11,13 Data are summarized in Table I.…”

Section: Discussionmentioning

confidence: 99%

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Ville¹,

Bellescize²,

Nguyen³

et al. 2009

Develop Med Child Neuro

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“…Miller-Dieker syndrome should be suspected in an infant with lissencephaly, refractory epilepsy, and severe developmental delay. Funduscopy revealing retinal abnormalities could suggest ring chromosome 14 (138)(139)(140). Characteristic facial features, gait, and absence of speech with a predominance of myoclonic, atonic, and atypical absence seizures and a classic age-related EEG pattern are the hallmarks of Angelman syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Seizures are universal in this condition (134). At least 35 cases were reported (135-137), some of which are familial (138)(139)(140). Any potential epilepsy genes would most likely be sited in the terminal long arm region, because the terminal short arm contains no single-copy genes.…”

Section: Ring Chromosome 14mentioning

confidence: 99%

“…Seizures begin in infancy and are intractable. A variety of seizure types have been described including GTCS (134,136,137,140,(142)(143)(144)(145)(146)(147), myoclonic (138,142,147), "minor motor seizures" (148), complex partial seizures, and secondarily generalized attacks (137,146). Of the 17 EEG reports identified, nine were normal or showed only nonepileptiform abnormalites (134,136,138,145,(149)(150)(151)(152), and eight had epileptiform discharges predominantly of multifocal type (134,137,142,143,146,147,153).…”

Section: Ring Chromosome 14mentioning

confidence: 99%

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Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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“…To determine whether it is also a common disorder in other ring chromosomes, we reviewed epilepsy frequencies in a total of 403 cases with ring chromosomes including 22 autosomes and X chromosome (Fig. 3) [Palka et al, 1986;Fagan et al, 1988;MacDermot et al, 1990;Matalon et al, 1990;Freyberger et al, 1991;Calabrese et al, 1994;Migliori et al, 1994;Lurie, 1995;Flejter et al, 1996;Lanzi et al, 1996;Wahlstrom et al, 1996;Conte et al, 1997;Cutenese et al, 2000;Rodriguez et al, 2000;Tonk et al, 2000;Barajas-Barajas et al, 2001;Dee et al, 2001;Stankiewicz et al, 2001;He et al, 2002;Muroya et al, 2002;Urban et al, 2002;van Karnebeek et al, 2002;Concolino et al, 2003;Ishmael et al, 2003;Morimoto et al, 2003;Parmar et al, 2003;Shashi et al, 2003;Battini et al, 2004;Bedoyan et al, 2004;Le Caignec et al, 2004;Leppig et al, 2004;Rope et al, 2004;Tumer et al, 2004;Zhang et al, 2004;Alkuraya et al, 2005;Nishiwaki et al, 2005]. Only ring chromosomes 14, 17, and 20 are strongly associated with seizure disorders.…”

Section: Seizure Disorder and Ring Chromosomementioning

confidence: 99%

Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

Zou

Dyke

Thorland

et al. 2006

American J of Med Genetics Pt A

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Ring chromosome 20 is a rare chromosome disorder characterized by a typical seizure phenotype consisting of complex partial seizures, frequent progression to generalized tonic or tonic-clonic seizures, and nocturnal frontal lobe seizures with frequent episodes of non-convulsive status epilepticus. Development may be normal or mildly delayed, followed by cognitive and behavioral decline after seizure onset. Here, we describe a patient with a typical severe seizure phenotype and a mosaic ring chromosome 20 without loss of p or q subtelomere regions or telomeric sequences. The ring had a longer telomere length than either of the telomere ends of its homologous chromosome 20 by quantitative fluorescence in situ hybridization analysis, suggesting that it might be derived from telomere-telomere fusion. The phenotypic comparison of this patient and other chromosome 20 cases that had terminal deletions of 20qter (n = 1) and 20pter (n = 7), shows that the epilepsy phenotype and electroencephalographic abnormalities are characteristic in patients with ring chromosome 20. Several hypotheses have been proposed to address the elusive mechanisms underlying the seizure disorder in ring chromosome 20. These possibilities include haploinsufficiency of two epilepsy genes CHRNA4 and KCNQ2 located at 20qter, silencing of these genes by a telomere position effect, or microdeletions or rearrangements of genetic material during the ring formation.

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Transmission of ring 14 chromosome from mother to two sons

Cited by 13 publications

References 12 publications

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

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