التفاصيل البيبلوغرافية
| العنوان: |
Video_1_NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.MP4 |
| المؤلفون: |
Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár |
| سنة النشر: |
2018 |
| المجموعة: |
Frontiers: Figshare |
| مصطلحات موضوعية: |
Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, NKX2-1 gene, NKX2-1 related disorders, benign hereditary chorea, brain-lung-thyroid syndrome, chorea, myoclonus dystonia, pituitary, empty sella |
| الوصف: |
Background:NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously. Case Presentation: We examined two members of a family with motor developmental delay, mixed movement disorder (myoclonus, dystonia and chorea) and endocrinological abnormalities (peripheric thyroid disease, and pituitary hormone deficiencies). Dystonia predominated at the father, and myoclonus at the daughter. The father had hypogonadotropic hypogonadism, while the daughter was treated with growth hormone deficiency. Both patients had empty sella on MRI. Candidate gene analyses were negative. Exome sequencing detected a pathogenic stop variation (NM_003317:c.338G>A, p.Trp113 * ) in the NKX2-1 gene. Conclusions: This case study has two highlights. (1) It draws attention to possible pituitary dysfunction in brain-lung-thyroid syndrome, and provide further evidences that this might be linked to loss of function of the NKX2-1 gene. (2) It underscores the importance of considering NKX2-1 related disorders in the differential diagnosis of myoclonus dystonia. |
| نوع الوثيقة: |
dataset |
| اللغة: |
unknown |
| العلاقة: |
https://figshare.com/articles/media/Video_1_NKX2-1_New_Mutation_Associated_With_Myoclonus_Dystonia_and_Pituitary_Involvement_MP4/6993350Test |
| DOI: |
10.3389/fgene.2018.00335.s002 |
| الإتاحة: |
https://doi.org/10.3389/fgene.2018.00335.s002Test
https://figshare.com/articles/media/Video_1_NKX2-1_New_Mutation_Associated_With_Myoclonus_Dystonia_and_Pituitary_Involvement_MP4/6993350Test |
| حقوق: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.8E6D5706 |
| قاعدة البيانات: |
BASE |
