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CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
Joint Authors
Meégarbaneé, André
Sabbagh, Sandra
Antoun, Stephanie
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-04-13
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infancy.
They are related to mutations in the CNTNAP1 (contactin associated protein 1) gene, playing an important role in myelination.
Recent studies have shown that both diseases could present with a wide phenotypic spectrum, with promising survival up to early childhood.
We report on a 7-year-old boy from a nonconsanguineous Lebanese family presenting with neonatal hypotonia, respiratory distress, and arthrogryposis.
Molecular analysis revealed the presence of a pathogenic variant in the CNTNAP1 gene leading to a premature stop codon: NM_003632.2:c.3361C>T p.(Arg1121∗).
A review of the literature is discussed.
American Psychological Association (APA)
Sabbagh, Sandra& Antoun, Stephanie& Meégarbaneé, André. 2020. CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. Case Reports in Medicine،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1148674
Modern Language Association (MLA)
Sabbagh, Sandra…[et al.]. CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. Case Reports in Medicine No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1148674
American Medical Association (AMA)
Sabbagh, Sandra& Antoun, Stephanie& Meégarbaneé, André. CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. Case Reports in Medicine. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1148674
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148674