CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
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 infa...
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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/10.1155/2020/8795607 |
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| _version_ | 1832547735529586688 |
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| author | Sandra Sabbagh Stephanie Antoun André Mégarbané |
| author_facet | Sandra Sabbagh Stephanie Antoun André Mégarbané |
| author_sort | Sandra Sabbagh |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c573c713c4c34523901234dd20ad5110 |
| 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-c573c713c4c34523901234dd20ad51102025-02-03T06:43:41ZengWileyCase Reports in Medicine1687-96271687-96352020-01-01202010.1155/2020/87956078795607CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic ReviewSandra Sabbagh0Stephanie Antoun1André Mégarbané2Pediatrics Department, Hôtel-Dieu de France, Beirut, LebanonPediatrics Department, Hôtel-Dieu de France, Beirut, LebanonSchool of Medicine, Lebanese University, Beirut, LebanonLethal 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.http://dx.doi.org/10.1155/2020/8795607 |
| spellingShingle | Sandra Sabbagh Stephanie Antoun André Mégarbané CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review Case Reports in Medicine |
| title | CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review |
| title_full | CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review |
| title_fullStr | CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review |
| title_full_unstemmed | CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review |
| title_short | CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review |
| title_sort | cntnap1 mutations and their clinical presentations new case report and systematic review |
| url | http://dx.doi.org/10.1155/2020/8795607 |
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