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A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.

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Title: A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.
Authors: Badv, Reza Shervin1 (AUTHOR), Shariatmadari, Fakhreddin1,2 (AUTHOR), Bayat, Shiva3 (AUTHOR), Memarian, Sara1 (AUTHOR), Esteghamat Hanzae, Samaneh1 (AUTHOR), Yousefimanesh, Hossein1 (AUTHOR) Yousefimaneshhossein@gmail.com
Source: Egyptian Journal of Medical Human Genetics. 11/4/2024, Vol. 25 Issue 1, p1-4. 4p.
Subject Terms: *MYOCLONUS, *POTASSIUM channels, *ETIOLOGY of diseases, *GENETIC disorder diagnosis, *EPILEPSY
Abstract: Background: Progressive myoclonic epilepsy is a clinically and genetically heterogeneous group of diseases characterized by myoclonic seizures, drug-resistant epilepsy and neurodevelopmental regression. The disease is attributed to mutations in KCTD7 (a member of the potassium channel tetramerization domain). Case presentation: We report the case of a 6-year-old girl with compound heterozygous mutation in KCTD7. Whole-exome sequencing was carried out to detect the mutations followed by Sanger sequencing of the patient in addition to the unaffected parents which confirmed the diagnosis. The first mutation [c. 202A > G (p.Thr68Ala)] was inherited from mother and the second one [c. 458G > A (p.Arg153His)] was inherited from father. Conclusions: To our knowledge, this is the first report of compound heterozygousKCTD7-related progressive myoclonic epilepsy in Iran with c.202A > G in particular as a novel mutation. Our findings widen the scope of our knowledge of the underlying genetic etiology of the aforementioned disease which can further help us in the genetic diagnosis of these patients. [ABSTRACT FROM AUTHOR]
Copyright of Egyptian Journal of Medical Human Genetics is the property of Egyptian Society of Human Genetics and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Label: Title
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  Data: A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.
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  Data: <searchLink fieldCode="AR" term="%22Badv%2C+Reza+Shervin%22">Badv, Reza Shervin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shariatmadari%2C+Fakhreddin%22">Shariatmadari, Fakhreddin</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bayat%2C+Shiva%22">Bayat, Shiva</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Memarian%2C+Sara%22">Memarian, Sara</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Esteghamat+Hanzae%2C+Samaneh%22">Esteghamat Hanzae, Samaneh</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yousefimanesh%2C+Hossein%22">Yousefimanesh, Hossein</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Yousefimaneshhossein@gmail.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Egyptian+Journal+of+Medical+Human+Genetics%22">Egyptian Journal of Medical Human Genetics</searchLink>. 11/4/2024, Vol. 25 Issue 1, p1-4. 4p.
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  Data: *<searchLink fieldCode="DE" term="%22MYOCLONUS%22">MYOCLONUS</searchLink><br />*<searchLink fieldCode="DE" term="%22POTASSIUM+channels%22">POTASSIUM channels</searchLink><br />*<searchLink fieldCode="DE" term="%22ETIOLOGY+of+diseases%22">ETIOLOGY of diseases</searchLink><br />*<searchLink fieldCode="DE" term="%22GENETIC+disorder+diagnosis%22">GENETIC disorder diagnosis</searchLink><br />*<searchLink fieldCode="DE" term="%22EPILEPSY%22">EPILEPSY</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Progressive myoclonic epilepsy is a clinically and genetically heterogeneous group of diseases characterized by myoclonic seizures, drug-resistant epilepsy and neurodevelopmental regression. The disease is attributed to mutations in KCTD7 (a member of the potassium channel tetramerization domain). Case presentation: We report the case of a 6-year-old girl with compound heterozygous mutation in KCTD7. Whole-exome sequencing was carried out to detect the mutations followed by Sanger sequencing of the patient in addition to the unaffected parents which confirmed the diagnosis. The first mutation [c. 202A > G (p.Thr68Ala)] was inherited from mother and the second one [c. 458G > A (p.Arg153His)] was inherited from father. Conclusions: To our knowledge, this is the first report of compound heterozygousKCTD7-related progressive myoclonic epilepsy in Iran with c.202A > G in particular as a novel mutation. Our findings widen the scope of our knowledge of the underlying genetic etiology of the aforementioned disease which can further help us in the genetic diagnosis of these patients. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Egyptian Journal of Medical Human Genetics is the property of Egyptian Society of Human Genetics and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1186/s43042-024-00603-5
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        Text: English
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              Text: 11/4/2024
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