Chiari Malformation Type I in a Patient with a Novel NKX2-1 Mutation
| Autor: | Daniel Gonçalves, Cíntia Castro-Correia, Micaela Guardiano, Miguel Leão, Mafalda Sampaio, Lara Lourenço |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Pathology
medicine.medical_specialty Choreoathetosis Case Report Chiari medicine.disease_cause Germline 030218 nuclear medicine & medical imaging 03 medical and health sciences Exon 0302 clinical medicine stomatognathic system Medicine Chiari malformation Foramen magnum Mutation business.industry General Neuroscience Thyroid choreoathetosis Brain respiratory system medicine.disease medicine.anatomical_structure Pediatrics Perinatology and Child Health Forebrain embryonic structures cardiovascular system hypothyroidism medicine.symptom business 030217 neurology & neurosurgery NKX2-1 |
| Zdroj: | Journal of Pediatric Neurosciences |
| ISSN: | 1998-3948 1817-1745 |
| Popis: | Chiari Malformation Type 1 is a congenital, condition characterized by abnormally shaped cerebellar tonsils that are displaced below the level of the foramen magnum. NKX2-1 gene encodes a transcription factor expressed during early development of thyroid, lung, and forebrain, and germline NKX2-1 mutations can lead to dysfunction in any of these three organs, resulting in brain–lung–thyroid syndrome. There have been few reports of structural brain anomalies in patients with an NKX2-1-related disorder. We report the first case of a girl with a genetically identified mutation in NKX2-1 that presents with a Chiari Malformation Type 1, eventually expanding the phenotypic spectrum of NKX2-1-related disorders while also highlighting a novel heterozygous pathogenic variant at exon 3 that disrupts the reading framework, originating an NKX2-1 protein with a different C-terminal. |
| Databáze: | OpenAIRE |
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