16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome

Miteff, Christina; Smith, Robert L.; Bain, Nicole; Subramanian, Gopinath M.; Brown, Janis E.; Kamien, Ben

doi:10.1177/0883073813516382

Cited by 7 publications

(5 citation statements)

References 21 publications

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“…Of these CNVs, 2.9% of patients have deletions at loci 15q11.2, 15q13.3, or 16q13.11, which are genomic hotspots previously associated with intellectual disability, autism, and schizophrenia 48. Similar deletions were confirmed in several independent samples 49–52. Other studies53–56 have also found recurrent distal deletion at 7q11.22, maternally derived duplication at 15q11.2-q13.3, duplication of 16p11.2, and duplication of 16p13 in patients with epilepsy (Table 2).…”

Section: Cnvssupporting

confidence: 61%

Genetic and epigenetic mechanisms of epilepsy: a review

Chen

Giri²,

Xia

et al. 2017

NDT

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Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11.2-q13.3, and 16p13.11-p13.2, some of which disrupt multiple genes, such as NRXN1, AUTS2, NLGN1, CNTNAP2, GRIN2A, PRRT2, NIPA2, and BMP5, implicated for neurodevelopmental disorders, including intellectual disability and autism. Unfortunately, only a few common genetic variants have been associated with epilepsy. Recent exome-sequencing studies have found some genetic mutations, most of which are located in nonion channel genes such as the LGI1, PRRT2, EFHC1, PRICKLE, RBFOX1, and DEPDC5 and in probands with rare forms of familial epilepsy, and some of these genes are involved with the neurodevelopment. Since epigenetics plays a role in neuronal function from embryogenesis and early brain development to tissue-specific gene expression, epigenetic regulation may contribute to the genetic mechanism of neurodevelopment through which a gene and the environment interacting with each other affect the development of epilepsy. This review focused on the analytic tools used to identify epilepsy and then provided a summary of recent linkage and association findings, indicating the existence of novel genes on several chromosomes for further understanding of the biology of epilepsy.

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Section: Cnvssupporting

confidence: 61%

Genetic and epigenetic mechanisms of epilepsy: a review

Chen

Giri²,

Xia

et al. 2017

NDT

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“…Case 4 exhibited a 1.5Mb duplication of 16p13.11p13.11 combined with Trisomy 18. The microduplication encompasses more than ten genes and is associated with 16p13.11 deletion syndrome, which has a wide range of phenotypic variations, from normal to intellectual disability, multiple congenital abnormalities, and epilepsy [32,33] . The parents declined family validation and opted for a termination of pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Relationship Between the Timing of Fetal Nasal Bone Abnormalities and Fetal Chromosomal Anomalies: A Retrospective Study in a Chinese Cohort

Wei,

Pan，

et al. 2024

Preprint

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Objective: The primary objective of this study is to explore the potential correlation between the timing of fetal nasal bone abnormalities and the occurrence of fetal chromosomal anomalies. Nevertheless, there is a paucity of research addressing the possible relationship between the precise timing of nasal bone abnormalities and their correlation with the specific type and severity of chromosomal anomalies. Furthermore, the study aims to explore the synergistic utilization of copy number variation sequencing (CNV-seq) and chromosome karyotype analysis as a combined approach for prenatal diagnosis. Methods: This study enrolled a total of 128 women who were diagnosed with fetal nasal bone absence or hypoplasia and underwent prenatal diagnosis. Samples obtained through amniocentesis or cordocentesis were analyzed using CNV-seq and chromosome karyotype analysis. Follow-up was conducted for all cases. The timing of nasal bone abnormalities, gestational age at detection, and the types of chromosomal anomalies identified were analyzed and compared. Result： A total of 129 samples were collected. Chromosomal anomalies were detected in 20 cases (15.75%) out of 127, comprising 17 cases of aneuploid abnormality, 1 case of structural abnormality, and 2 cases of large fragment duplication. CNV-seq identified 4 additional cases of pathogenic copy number variations and 9 cases of uncertain significance copy number variations (VUS), increasing the detection rate of chromosome abnormalities to 24.03% (31/129). Ultrasound identified nasal bone anomalies in 77 fetuses during both the first and second trimesters (Group 1) and in 52 fetuses during the second trimester (Group 2). Group 1 exhibited a significantly higher prevalence of genomic abnormalities compared to Group 2 [31.27% (24/77) vs 13.46% (7/52), χ2=5.331, P＜0.05]. Furthermore, a significant difference was observed in the incidence of chromosomal abnormalities between cases of solitary nasal bone anomaly and those with combined nasal bone anomalies [14.46% (12/83) vs 41.30% (19/46), χ2=11.685, P＜0.01]. However, no significant difference was found in the incidence of chromosomal abnormalities between fetuses with nasal bone absence and those with nasal bone hypoplasia [27.96% (26/93) vs 13.89% (5/36), χ2=2.814, P＞0.05]. Ultrasonography conducted during both the early and second trimesters revealed that fetuses exhibiting abnormal nasal bone development were at a higher risk of chromosomal abnormalities compared to those where abnormal nasal bone development was first detected in the second trimester. Fetal nasal bone anomaly should be regarded as a significant marker for prenatal diagnosis and utilized as the foundation for additional testing, especially when combined with other soft markers or structural abnormalities that significantly elevate the probability of chromosomal abnormalities. The combination of chromosome karyotype analysis and CNV-seq should be employed to improve diagnostic accuracy and furnish supplementary information for evaluating fetal prognosis. Conclusion: This study sheds light on the potential relationship between the timing of fetal nasal bone abnormalities and fetal chromosomal anomalies. The findings have implications for antenatal screening and diagnostic strategies, emphasizing the importance of considering both the presence of the nasal bone and its timing when evaluating the risk of chromosomal anomalies. Further research is warranted to confirm and extend these preliminary findings, potentially enhancing the accuracy and effectiveness of prenatal screening programs.

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“…Because of the long time interval between initial febrile seizure and the subsequent epilepsy, the cause of initial seizure is not clear in our patient. The presentation of HHE syndrome is also associated with several gene mutations . In many cases no obvious cause is found …”

Section: Discussionmentioning

confidence: 99%

An autopsy case of hemiconvulsion‐hemiplegia‐epilepsy syndrome manifesting as cerebral hemiatrophy in an elderly man

et al. 2015

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We report an autopsy case of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome in a 79-year-old man. HHE syndrome usually occurs in children younger than 4 years of age. Although most HHE syndrome patients live into adult life, only a few cases of the syndrome have been reported in the elderly. In our case, cerebral hemiatrophy, left mesial temporal sclerosis and crossed cerebellar atrophy were observed. Because this is the oldest case ever reported, we further investigated age-related neuropathological changes and found an interhemispheric difference in amyloid-β-related neuropathologic changes. There were almost no senile plaques or amyloid-laden vessels in the left hemisphere. As far as we know, this is the first report of age-related neuropathology in a brain manifesting HHE syndrome.

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16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome

Cited by 7 publications

References 21 publications

Genetic and epigenetic mechanisms of epilepsy: a review

Genetic and epigenetic mechanisms of epilepsy: a review

Relationship Between the Timing of Fetal Nasal Bone Abnormalities and Fetal Chromosomal Anomalies: A Retrospective Study in a Chinese Cohort

An autopsy case of hemiconvulsion‐hemiplegia‐epilepsy syndrome manifesting as cerebral hemiatrophy in an elderly man

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