NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement
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; an...
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| Format: | Article |
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Frontiers Media S.A.
2018-08-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2018.00335/full |
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| author | Péter Balicza Zoltán Grosz Viktor Molnár Anett Illés Dora Csabán Andras Gézsi Lívia Dézsi Dénes Zádori László Vécsei László Vécsei Mária Judit Molnár |
| author_facet | Péter Balicza Zoltán Grosz Viktor Molnár Anett Illés Dora Csabán Andras Gézsi Lívia Dézsi Dénes Zádori László Vécsei László Vécsei Mária Judit Molnár |
| author_sort | Péter Balicza |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T23:43:05Z |
| format | Article |
| id | doaj.art-29a8ef6e2ffb44f08eeeba06d530d232 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-10T23:43:05Z |
| publishDate | 2018-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-29a8ef6e2ffb44f08eeeba06d530d2322022-12-22T01:28:59ZengFrontiers Media S.A.Frontiers in Genetics1664-80212018-08-01910.3389/fgene.2018.00335404801NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary InvolvementPéter Balicza0Zoltán Grosz1Viktor Molnár2Anett Illés3Dora Csabán4Andras Gézsi5Lívia Dézsi6Dénes Zádori7László Vécsei8László Vécsei9Mária Judit Molnár10Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, HungaryDepartment of Neurology, Faculty of General Medicine, Albert Szent-Györgyi Clinical Centre, Univesity of Szeged, Szeged, HungaryDepartment of Neurology, Faculty of General Medicine, Albert Szent-Györgyi Clinical Centre, Univesity of Szeged, Szeged, HungaryDepartment of Neurology, Faculty of General Medicine, Albert Szent-Györgyi Clinical Centre, Univesity of Szeged, Szeged, HungaryMTA-SZTE Neuroscience Research Group, Szeged, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, HungaryBackground: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.https://www.frontiersin.org/article/10.3389/fgene.2018.00335/fullNKX2-1 geneNKX2-1 related disordersbenign hereditary choreabrain-lung-thyroid syndromechoreamyoclonus dystonia |
| spellingShingle | Péter Balicza Zoltán Grosz Viktor Molnár Anett Illés Dora Csabán Andras Gézsi Lívia Dézsi Dénes Zádori László Vécsei László Vécsei Mária Judit Molnár NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement Frontiers in Genetics NKX2-1 gene NKX2-1 related disorders benign hereditary chorea brain-lung-thyroid syndrome chorea myoclonus dystonia |
| title | NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement |
| title_full | NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement |
| title_fullStr | NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement |
| title_full_unstemmed | NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement |
| title_short | NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement |
| title_sort | nkx2 1 new mutation associated with myoclonus dystonia and pituitary involvement |
| topic | NKX2-1 gene NKX2-1 related disorders benign hereditary chorea brain-lung-thyroid syndrome chorea myoclonus dystonia |
| url | https://www.frontiersin.org/article/10.3389/fgene.2018.00335/full |
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