Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
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Publication year
2005Source
European Journal of Pediatrics, 164, 1, (2005), pp. 28-30ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics - OUD tm 2017
Neurology
Human Genetics
Journal title
European Journal of Pediatrics
Volume
vol. 164
Issue
iss. 1
Page start
p. 28
Page end
p. 30
Subject
DCN 1: Perception and Action; DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 6: Hormonal regulation; IGMD 8: Mitochondrial medicine; IGMD 9: Renal disorder; UMCN 1.2: Molecular diagnosis, prognosis and monitoring; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolism; UMCN 5.2: Endocrinology and reproductionAbstract
A 23-year-old man was diagnosed with pulmonary alveolar proteinosis at the age of 11 months, and primary hypothyroidism gradually developed during infancy. He had delayed developmental milestones and severe hypotonia that evolved into non-progressive chorea during childhood. He died from large cell lung carcinoma at the age of 23 years. A de novo heterozygous insertion mutation 859-860insC in the TITF-1 gene was demonstrated. CONCLUSION: TITF-1 gene mutations should be considered in paediatric and adult patients with unexplained (combinations of) chorea, mental retardation, primary hypothyroidism, and chronic lung disease. Introduction of a name for the disorder, e.g. Brain-Thyroid-Lung syndrome, would probably facilitate further recognition. Whether the TITF-1 gene mutation in this patient predisposed to the development of lung cancer remains speculative.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122516]
- Faculty of Medical Sciences [90373]
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