Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure.
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.
Iwatani
N
N
Department of Child Development, Kumamoto University School of Medicine, Kumamoto, Japan.
Mabe
H
H
Devriendt
K
K
Kodama
M
M
Miike
T
T
D002883:Chromosomes, Human, Pair 14; D003409:Congenital Hypothyroidism; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D009679:Nuclear Family; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics*; D013972:Thyrotropin / Q000097:blood
D011988:Receptors, Thyroid Hormone; D013972:Thyrotropin