A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1
| Autor: | Mira Kharbanda, Jeremy Jones, Pia Hermanns, Malcolm Donaldson, Iain Horrocks, Joachim Pohlenz |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
endocrine system Pathology medicine.medical_specialty endocrine system diseases Thyroid Nuclear Factor 1 Pathogenesis 03 medical and health sciences 0302 clinical medicine Benign hereditary chorea Chorea Internal medicine Congenital Hypothyroidism Genetics medicine Humans Child Athetosis Genetics (clinical) Chromosomal Deletion Respiratory Distress Syndrome Newborn Respiratory distress biology Nuclear Proteins General Medicine respiratory system medicine.disease Phenotype Congenital hypothyroidism 030104 developmental biology Endocrinology biology.protein Female medicine.symptom Gene Deletion 030217 neurology & neurosurgery Transcription Factors NK2 homeobox 1 |
| Zdroj: | European Journal of Medical Genetics. 60:257-260 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2017.03.001 |
| Popis: | Brain-lung-thyroid syndrome (OMIM #610978) is associated with mutations in the NK2 homeobox 1 (NKX2-1) gene, a transcription factor important in development. 50% of patients are affected by the full triad, comprising congenital hypothyroidism, benign hereditary chorea and infant respiratory distress syndrome. Four cases have previously been reported where a patient has features consistent with brain-lung-thyroid syndrome and a chromosome 14q13 deletion adjacent to, but not disrupting, NKX2-1. We present a patient who has a phenotype consistent with brain-lung-thyroid syndrome, featuring congenital hypothyroidism and choreoathetoid movements with gross motor delay. Thyroid ultrasound showed a small-normal gland and spontaneous resolution of hypothyroidism. Array CGH revealed a de novo 14q13.2-3 deletion adjacent to but not directly involving NKX2-1. Sequencing of NKX2-1 was normal. This report highlights a further case of chromosomal deletion adjacent to NXK2-1 in a patient with a phenotype consistent with brain-lung-thyroid syndrome, and confirms that array-CGH is a useful test in the investigation of congenital hypothyroidism. Deletion of the adjacent gene MBIP in most reported cases so far may be relevant to the pathogenesis of brain-lung-thyroid syndrome. Deletion of nearby promoter or enhancer elements acting on NKX2-1 could also be an important factor. However, further work is needed to elucidate the pathogenesis of the brain-lung-thyroid phenotype in such cases. |
| Databáze: | OpenAIRE |
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