NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement
| العنوان: | NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement |
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| المؤلفون: | Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár |
| المصدر: | Frontiers in Genetics Frontiers in Genetics, Vol 9 (2018) |
| بيانات النشر: | Frontiers Media S.A., 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Movement disorders, Ataxia, lcsh:QH426-470, NKX2-1 gene, Case Report, benign hereditary chorea, pituitary, 03 medical and health sciences, 0302 clinical medicine, Benign hereditary chorea, myoclonus dystonia, Hypogonadotropic hypogonadism, medicine, Genetics, chorea, Genetics (clinical), Dystonia, business.industry, Chorea, brain-lung-thyroid syndrome, medicine.disease, nervous system diseases, lcsh:Genetics, 030104 developmental biology, NKX2-1 related disorders, empty sella, Molecular Medicine, medicine.symptom, business, Haploinsufficiency, Myoclonus, 030217 neurology & neurosurgery |
| 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 ({"type":"entrez-nucleotide","attrs":{"text":"NM_003317","term_id":"1677498761","term_text":"NM_003317"}}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. |
| اللغة: | English |
| تدمد: | 1664-8021 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243568f0d88106caa3be8952d5fa7a66Test http://europepmc.org/articles/PMC6113386Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....243568f0d88106caa3be8952d5fa7a66 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16648021 |
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