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A Report on a Family with TMTC3-Related Syndrome and Review
Joint Authors
Hana, Sayeeda
karthik, Deepak
Shan, Jingxuan
El Hayek, Stephany
Chouchane, Lotfi
Megarbane, André
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-11-04
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Hana, Sayeeda& karthik, Deepak& Shan, Jingxuan& El Hayek, Stephany& Chouchane, Lotfi& Megarbane, André. 2020. A Report on a Family with TMTC3-Related Syndrome and Review. Case Reports in Medicine،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1148598
Modern Language Association (MLA)
Hana, Sayeeda…[et al.]. A Report on a Family with TMTC3-Related Syndrome and Review. Case Reports in Medicine No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1148598
American Medical Association (AMA)
Hana, Sayeeda& karthik, Deepak& Shan, Jingxuan& El Hayek, Stephany& Chouchane, Lotfi& Megarbane, André. A Report on a Family with TMTC3-Related Syndrome and Review. Case Reports in Medicine. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1148598
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148598