Deletion of NKX2. 1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
N Iwatani, H Mabe, K Devriendt, M Kodama… - The Journal of …, 2000 - Elsevier
N Iwatani, H Mabe, K Devriendt, M Kodama, T Miike
The Journal of pediatrics, 2000•ElsevierThyroid 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.(J Pediatr 2000; 137: 272-6)
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.(J Pediatr 2000; 137: 272-6)
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. (J Pediatr 2000;137:272-6)
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