8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

Nakayama, Tojo; Nabatame, Shin; Saito, Yoshiaki; Nakagawa, Eiji; Shimojima, Keiko; Yamamoto, Toshiyuki; Kaneko, Yu; Okumura, Keiko; Fujie, Hiromi; Uematsu, Mitsugu; Komaki, Hirofumi; Sugai, Kenji; Sasaki, Masayuki

doi:10.1016/j.seizure.2012.01.002

Cited by 8 publications

(4 citation statements)

References 25 publications

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“… Unknown Dup 0.8–9.2 Mb. Unknown 5 Microduplication syndrome Unknown Unknown Giorda R et al 2009 [ 53 ] 16p13 Chr16:10,246,239–10,354,862 Del 109Kb 1 GRIN2A 4 ESESS/CSWSS > 50% Channelopathy Lesca et al, 2012 [ 12 ], Constanze Reutlinger et al 2010 [ 54 ] 8p23.3 Unknown Del 1.8-Mb 3 FBXO25 2 8p deletion syndrome 20–30% Unknown Tojo Nakayama et al 2012 [ 55 ] 9p24.2 Unknown Dup 2.6-Mb Unknown 2 9p duplication syndrome 50–60% Unknown Tojo Nakayama et al 2012 [ 55 ] 14q21.3 Chr14:47,592,578–47,662,394 Del 70Kb 1 MDGA2 1 ESESS/CSWSS > 50% Metabolism of proteins Lesca et al 2012 [ 12 ] 22q13.32-q13.33 Chr22:49,346,697–51,219,009 Del 1.9 Mb 45 SHANK3 1 ESESS/CSWSS > 50% Synapse connection Lesca et al 2012 [ 12 ] 16q23.3 Chr16:83,599,498–83,857,382 Del 258Kb 2 CDH13 1 ESESS/CSWSS > 50% Cell adhesion Lesca et al 2012 [ 12 ] ...…”

Section: Resultsmentioning

confidence: 99%

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review

et al. 2018

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BackgroundElectrical status epilepticus during slow-wave sleep (ESESS) which is also known as continuous spike-wave of slow sleep (CSWSS) is type of electroencephalographic (EEG) pattern which is seen in ESESS/CSWSS/epilepsy aphasia spectrum. This EEG pattern can occur alone or with other syndromes. Its etiology is not clear, however, brain malformations, immune disorders, and genetic etiologies are suspected to contribute. We aimed to perform a systematic review of all genetic etiologies which have been reported to associate with ESESS/CSWSS/epilepsy-aphasia spectrum. We further aimed to identify the common underlying pathway which can explain it. To our knowledge, there is no available systematic review of genetic etiologies of ESESS/CSWSS/epilepsy-aphasia spectrum. MEDLINE, EMBASE, PubMed and Cochrane review database were searched, using terms specific to electrical status epilepticus during sleep or continuous spike–wave discharges during slow sleep or epilepsy-aphasia spectrum and of studies of genetic etiologies. These included monogenic mutations and copy number variations (CNVs). For each suspected dosage-sensitive gene, further studies were performed through OMIM and PubMed database.ResultsTwenty-six studies out of the 136 identified studies satisfied our inclusion criteria. I51 cases were identified among those 26 studies. 16 studies reported 11 monogenic mutations: SCN2A (N = 6), NHE6/SLC9A6 (N = 1), DRPLA/ ATN1 (N = 1), Neuroserpin/SRPX2 (N = 1), OPA3 (N = 1), KCNQ2 (N = 2), KCNA2 (N = 5), GRIN2A (N = 34), CNKSR2 (N = 2), SLC6A1 (N = 2) and KCNB1 (N = 5). 10 studies reported 89 CNVs including 9 recurrent ones: Xp22.12 deletion encompassing CNKSR2 (N = 6), 16p13 deletion encompassing GRIN2A (N = 4), 15q11.2–13.1 duplication (N = 15), 3q29 duplication (N = 11), 11p13 duplication (N = 2), 10q21.3 deletion (N = 2), 3q25 deletion (N = 2), 8p23.3 deletion (N = 2) and 9p24.2 (N = 2). 68 of the reported genetic etiologies including monogenic mutations and CNVs were detected in patients with ESESS/CSWSS/epilepsy aphasia spectrum solely. The most common underlying pathway was channelopathy (N = 56).ConclusionsOur review suggests that genetic etiologies have a role to play in the occurrence of ESESS/CSWSS/epilepsy-aphasia spectrum. The common underlying pathway is channelopathy. Therefore we propose more genetic studies to be done for more discoveries which can pave a way for proper drug identification. We also suggest development of common cut-off value for spike-wave index to ensure common language among clinicians and researchers.Electronic supplementary materialThe online version of this article (10.1186/s12863-018-0628-5) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review

et al. 2018

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“…Indeed, in patient 5, seizures may be linked to trisomy 9p. This trisomy is associated with cerebral, neurological, and epileptic abnormalities (Nakayama et al, 2012;Stern, 1996). Array revealed that patient 2 presented a small deletion located at 17q21.3.…”

Section: Discussionmentioning

confidence: 99%

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Chehimi

Zanardo

Ceroni

et al. 2019

Molec Gen & Gen Med

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Background Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p‐). The main clinical features include a high‐pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth and development. Methods We studied 14 Brazilian patients with CdCS using genomic array in order to better define the 5p breakpoints and recognize copy number variations (CNVs) that contribute to clinical manifestations associated with the syndrome. Results Array confirmed terminal deletions in 13 patients and an interstitial deletion in one patient. It was also possible to map the breakpoints and associate a genomic region of 4.7 Mb to the development of head circumference and cat‐like cry. We also found other CNVs concomitant to the 5p deletion including a 9p duplication, a 17q deletion, and a 22q deletion in three different patients. Conclusion With advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype–phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat‐like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype–phenotype correlation to perform a complete clinical and molecular diagnosis.

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“…Genomic data were collected from the literature where approximate breakpoints are known for 53 individuals with 9p deletion and duplication syndromes. 12 , 14 , 15 , 16 , 17 , 19 , 27 , 29 , 30 , 33 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 …”

Section: Methodsmentioning

confidence: 99%

From karyotypes to precision genomics in 9p deletion and duplication syndromes

Sams

Tate

et al. 2022

Human Genetics and Genomics Advances

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While 9p deletion and duplication syndromes have been studied for several years, small sample sizes and minimal high-resolution data have limited a comprehensive delineation of genotypic and phenotypic characteristics. In this study, we examined genetic data from 719 individuals in the worldwide 9p Network Cohort: a cohort seven to nine times larger than any previous study of 9p. Most breakpoints occur in bands 9p22 and 9p24, accounting for 35% and 38% of all breakpoints, respectively. Bands 9p11 and 9p12 have the fewest breakpoints, with each accounting for 0.6% of all breakpoints. The most common phenotype in 9p deletion and duplication syndromes is developmental delay, and we identified eight known neurodevelopmental disorder genes in 9p22 and 9p24. Since it has been previously reported that some individuals have a secondary structural variant related to the 9p variant, we examined our cohort for these variants and found 97 events. The top secondary variant involved 9q in 14 individuals (1.9%), including ring chromosomes and inversions. We identified a gender bias with significant enrichment for females (p = 0.0006) that may arise from a sex reversal in some individuals with 9p deletions. Genes on 9p were characterized regarding function, constraint metrics, and protein-protein interactions, resulting in a prioritized set of genes for further study. Finally, we achieved precision genomics in one child with a complex 9p structural variation using modern genomic technologies, demonstrating that long-read sequencing will be integral for some cases. Our study is the largest ever on 9p-related syndromes and provides key insights into genetic factors involved in these syndromes.

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8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

Cited by 8 publications

References 25 publications

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

From karyotypes to precision genomics in 9p deletion and duplication syndromes

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