Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
| Autor: | Noritaka Iwatani, Mihoko Kodama, Hiroyo Mabe, Koenraad Devriendt, Teruhisa Miike |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
endocrine system
medicine.medical_specialty Heterozygote endocrine system diseases Thyroid Transcription Factor 1 Thyrotropin Nuclear Family Thyroid-stimulating hormone Hypothyroidism Internal medicine medicine Congenital Hypothyroidism Humans Chromosomes Human Pair 14 Triiodothyronine Receptors Thyroid Hormone business.industry Thyroid Infant Newborn medicine.disease Congenital hypothyroidism medicine.anatomical_structure Endocrinology Pediatrics Perinatology and Child Health Female Lung morphogenesis Haploinsufficiency PAX8 business Respiratory Insufficiency Gene Deletion |
| Zdroj: | The Journal of pediatrics. 137(2) |
| ISSN: | 0022-3476 |
| Popis: | Thyroid transcription factor-1 encoded by the NKX2.1 gene is a candidate regulator of thyroid and lung morphogenesis and function in humans. We report 2 female siblings with congenital thyroid dysfunction and recurrent acute respiratory distress carrying a heterozygous deletion of chromosome 14q12-13.3, resulting in haploinsufficiency for the NKX2.1 gene. This observation further supports a physiologic role for thyroid transcription factor-1 in early human thyroid and pulmonary function. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect