A Report on a Family with TMTC3-Related Syndrome and Review
Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2020/7163038 |
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| _version_ | 1832550895463694336 |
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| author | Sayeeda Hana Deepak karthik Jingxuan Shan Stephany El Hayek Lotfi Chouchane André Megarbane |
| author_facet | Sayeeda Hana Deepak karthik Jingxuan Shan Stephany El Hayek Lotfi Chouchane André Megarbane |
| author_sort | Sayeeda Hana |
| collection | DOAJ |
| description | Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular hypertopia. Here, we report a new case of a TMTC3-related syndrome in a Lebanese family with two affected siblings showing severe psychomotor retardation, intellectual disability, microcephaly, absence of speech, muscular hypotonia, and seizures. Whole exome sequencing revealed a homozygous pathogenic variant c.211 C > T (p.R71C) in the TMTC3 gene in both siblings. A review of the literature on TMTC3-related syndrome and its causal mutations is provided. |
| format | Article |
| id | doaj-art-3b06c9ec25484a10a95640bdd4eccaf3 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-3b06c9ec25484a10a95640bdd4eccaf32025-02-03T06:05:30ZengWileyCase Reports in Medicine1687-96271687-96352020-01-01202010.1155/2020/71630387163038A Report on a Family with TMTC3-Related Syndrome and ReviewSayeeda Hana0Deepak karthik1Jingxuan Shan2Stephany El Hayek3Lotfi Chouchane4André Megarbane5Centre for Arab Genomic Studies, Dubai, United Arab Emirates, QatarGenetic Intelligence Laboratory, Weill Cornell Medicine-Qatar, Qatar Foundation, Doha, QatarGenetic Intelligence Laboratory, Weill Cornell Medicine-Qatar, Qatar Foundation, Doha, QatarCentre for Arab Genomic Studies, Dubai, United Arab Emirates, QatarGenetic Intelligence Laboratory, Weill Cornell Medicine-Qatar, Qatar Foundation, Doha, QatarDepartment of Human Genetics, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University, Byblos, LebanonRecessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular hypertopia. Here, we report a new case of a TMTC3-related syndrome in a Lebanese family with two affected siblings showing severe psychomotor retardation, intellectual disability, microcephaly, absence of speech, muscular hypotonia, and seizures. Whole exome sequencing revealed a homozygous pathogenic variant c.211 C > T (p.R71C) in the TMTC3 gene in both siblings. A review of the literature on TMTC3-related syndrome and its causal mutations is provided.http://dx.doi.org/10.1155/2020/7163038 |
| spellingShingle | Sayeeda Hana Deepak karthik Jingxuan Shan Stephany El Hayek Lotfi Chouchane André Megarbane A Report on a Family with TMTC3-Related Syndrome and Review Case Reports in Medicine |
| title | A Report on a Family with TMTC3-Related Syndrome and Review |
| title_full | A Report on a Family with TMTC3-Related Syndrome and Review |
| title_fullStr | A Report on a Family with TMTC3-Related Syndrome and Review |
| title_full_unstemmed | A Report on a Family with TMTC3-Related Syndrome and Review |
| title_short | A Report on a Family with TMTC3-Related Syndrome and Review |
| title_sort | report on a family with tmtc3 related syndrome and review |
| url | http://dx.doi.org/10.1155/2020/7163038 |
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