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A case of brain-lung-thyroid syndrome.
Liang R, Ou S, Ding Y, Liu C. Liang R, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Mar 28;47(3):396-400. doi: 10.11817/j.issn.1672-7347.2022.200998. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 35545334 Free PMC article. Chinese, English.
Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. ...The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections. Brain-lung-thyroid …
Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. ...The boy's language and movement have impro …
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Ediger K, Hicks A, Siriwardena K, Joynt C. Ediger K, et al. BMJ Case Rep. 2021 Mar 31;14(3):e241032. doi: 10.1136/bcr-2020-241032. BMJ Case Rep. 2021. PMID: 33789861 Free PMC article.
The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation in the NKX2-1 gene....
The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation i …
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome.
Uematsu M, Haginoya K, Kikuchi A, Nakayama T, Kakisaka Y, Numata Y, Kobayashi T, Hino-Fukuyo N, Fujiwara I, Kure S. Uematsu M, et al. J Neurol Sci. 2012 Apr 15;315(1-2):77-81. doi: 10.1016/j.jns.2011.11.025. Epub 2011 Dec 12. J Neurol Sci. 2012. PMID: 22166853
Mutations in NKX2-1 cause neurological, pulmonary, and thyroid hormone impairment. Recently, the disease was named brain-lung-thyroid syndrome. Here, we report three patients with brain-lung-thyroid syndrome. ...
Mutations in NKX2-1 cause neurological, pulmonary, and thyroid hormone impairment. Recently, the disease was named brain-lung- …
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.
Shetty VB, Kiraly-Borri C, Lamont P, Bikker H, Choong CS. Shetty VB, et al. J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):373-8. doi: 10.1515/jpem-2013-0109. J Pediatr Endocrinol Metab. 2014. PMID: 24129101
Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1/TTF1) mutations. ...
Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, an …
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.
Villafuerte B, Natera-de-Benito D, González A, Mori MA, Palomares M, Nevado J, García-Miñaur S, Lapunzina P, González-Granado LI, Allende LM, Moreno JC. Villafuerte B, et al. Eur J Med Genet. 2018 Jul;61(7):393-398. doi: 10.1016/j.ejmg.2018.02.007. Epub 2018 Feb 22. Eur J Med Genet. 2018. PMID: 29477862
A CGH-array identified a deletion of 3.32 Mb in chromosome 14q13.2-q21.1 containing 20 genes, including NKX2-1, PAX9 and two candidate genes (NFKB1A and PPP2R3C) involved in immune response. The Brain-Lung-Thyroid syndrome (OMIM#610978; ORPHA:209905) a …
A CGH-array identified a deletion of 3.32 Mb in chromosome 14q13.2-q21.1 containing 20 genes, including NKX2-1, PAX9 and two candidate genes …
Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
Nattes E, Lejeune S, Carsin A, Borie R, Gibertini I, Balinotti J, Nathan N, Marchand-Adam S, Thumerelle C, Fauroux B, Bosdure E, Houdouin V, Delestrain C, Louha M, Couderc R, De Becdelievre A, Fanen P, Funalot B, Crestani B, Deschildre A, Dubus JC, Epaud R. Nattes E, et al. Respir Med. 2017 Aug;129:16-23. doi: 10.1016/j.rmed.2017.05.014. Epub 2017 May 26. Respir Med. 2017. PMID: 28732825 Free article. Clinical Trial.
Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain-lung-thyroid syndrome, 3 had neurological and lung symptoms and 4 had only pulmonary symptoms. ...
Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain …
Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.
Soreze Y, Nathan N, Jegard J, Hervieux E, Clermidi P, Sileo C, Louvrier C, Legendre M, Coulomb L'Herminé A. Soreze Y, et al. Neonatology. 2024;121(1):133-136. doi: 10.1159/000534076. Epub 2023 Nov 30. Neonatology. 2024. PMID: 38035569
The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (AEC2), and germline mutations are known to be associated with brain-lung thyroid syndrome. We report the case of …
The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (A …
Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.
Gu R, Ye G, Zhou Y, Jiang Z. Gu R, et al. Medicine (Baltimore). 2020 Mar;99(12):e19650. doi: 10.1097/MD.0000000000019650. Medicine (Baltimore). 2020. PMID: 32195974 Free PMC article.
RATIONALE: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. ...
RATIONALE: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized …
Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
Fourneaux R, Castets S, Godefroy A, Grelet M, Abeillon-du Payrat J, Saveanu A, Castinetti F, Reynaud R. Fourneaux R, et al. Horm Res Paediatr. 2022;95(3):296-303. doi: 10.1159/000524233. Epub 2022 Mar 29. Horm Res Paediatr. 2022. PMID: 35350016
CASE PRESENTATION: In the index case, an investigation at birth of a suspected brain-lung-thyroid syndrome surprisingly revealed a central hypothyroidism. ...
CASE PRESENTATION: In the index case, an investigation at birth of a suspected brain-lung-thyroid syndrome surpr …
11 results