Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy
Background: Contactin 2, encoded by CNTN2 on chromosome 1q32.1, is a neural-specific glycoprotein and plays important roles in neurodevelopment. A deleterious homozygous variant in the CNTN2 gene was previously reported to cause autosomal recessive cortical myoclonic tremor and epilepsy. Since then,...
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doaj-f7149425749c4763bb2e7ed6693ac9792021-10-08T07:29:15ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-10-011210.3389/fgene.2021.743833743833Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental DisomyWenjie Chen0Wenjie Chen1Fei Chen2Yiping Shen3Yiping Shen4Yiping Shen5Yiping Shen6Zhixian Yang7Jiong Qin8Department of Paediatrics, Peking University People’s Hospital, Beijing, ChinaDepartment of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou, ChinaThe Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Guangxi, ChinaThe Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Guangxi, ChinaDepartment of Medical Genetics, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDivision of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, United StatesDepartment of Neurology, Harvard Medical School, Boston, MA, United StatesDepartment of Pediatrics, Peking University First Hospital, Beijing, ChinaDepartment of Paediatrics, Peking University People’s Hospital, Beijing, ChinaBackground: Contactin 2, encoded by CNTN2 on chromosome 1q32.1, is a neural-specific glycoprotein and plays important roles in neurodevelopment. A deleterious homozygous variant in the CNTN2 gene was previously reported to cause autosomal recessive cortical myoclonic tremor and epilepsy. Since then, there has been no further report confirming the association of CNTN2 and epilepsy. Here, we reported one new case, who presented with epilepsy, carrying a novel homozygous frameshift variant in CNTN2. The clinical and genetic features of the patient were reviewed.Case presentation: The male patient presented with preschool age-of-onset neurodevelopmental impairment and focal seizures of temporal origin, and responded to valproate. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in CNTN2 (c.2873_c.2874delCT, p.Thr958Thrfs). The patient’s mother was a heterozygous carrier while his father was wild-type; they were both unaffected and non-consanguineous. Further study revealed that maternal uniparental disomy (1q32.1) unmasked the heterozygous variant of CNTN2 in the proband.Conclusions: This case enhanced the gene–disease relationship between CNTN2 and epilepsy, which will help to further understand this emerging disorder.https://www.frontiersin.org/articles/10.3389/fgene.2021.743833/fullCNTN2epilepsyuniparental disomy (UPD)neurodevelopmental disorder (NDD)genotype-phenotype correlation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Wenjie Chen Wenjie Chen Fei Chen Yiping Shen Yiping Shen Yiping Shen Yiping Shen Zhixian Yang Jiong Qin |
spellingShingle |
Wenjie Chen Wenjie Chen Fei Chen Yiping Shen Yiping Shen Yiping Shen Yiping Shen Zhixian Yang Jiong Qin Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy Frontiers in Genetics CNTN2 epilepsy uniparental disomy (UPD) neurodevelopmental disorder (NDD) genotype-phenotype correlation |
author_facet |
Wenjie Chen Wenjie Chen Fei Chen Yiping Shen Yiping Shen Yiping Shen Yiping Shen Zhixian Yang Jiong Qin |
author_sort |
Wenjie Chen |
title |
Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy |
title_short |
Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy |
title_full |
Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy |
title_fullStr |
Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy |
title_full_unstemmed |
Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy |
title_sort |
case report: a case of epileptic disorder associated with a novel cntn2 frameshift variant in homozygosity due to maternal uniparental disomy |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Genetics |
issn |
1664-8021 |
publishDate |
2021-10-01 |
description |
Background: Contactin 2, encoded by CNTN2 on chromosome 1q32.1, is a neural-specific glycoprotein and plays important roles in neurodevelopment. A deleterious homozygous variant in the CNTN2 gene was previously reported to cause autosomal recessive cortical myoclonic tremor and epilepsy. Since then, there has been no further report confirming the association of CNTN2 and epilepsy. Here, we reported one new case, who presented with epilepsy, carrying a novel homozygous frameshift variant in CNTN2. The clinical and genetic features of the patient were reviewed.Case presentation: The male patient presented with preschool age-of-onset neurodevelopmental impairment and focal seizures of temporal origin, and responded to valproate. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in CNTN2 (c.2873_c.2874delCT, p.Thr958Thrfs). The patient’s mother was a heterozygous carrier while his father was wild-type; they were both unaffected and non-consanguineous. Further study revealed that maternal uniparental disomy (1q32.1) unmasked the heterozygous variant of CNTN2 in the proband.Conclusions: This case enhanced the gene–disease relationship between CNTN2 and epilepsy, which will help to further understand this emerging disorder. |
topic |
CNTN2 epilepsy uniparental disomy (UPD) neurodevelopmental disorder (NDD) genotype-phenotype correlation |
url |
https://www.frontiersin.org/articles/10.3389/fgene.2021.743833/full |
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