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Article

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

Human mutation - 1 Feb 2010

Guillot Loïc, Carré Aurore, Szinnai Gabor, Castanet Mireille, Tron Elodie, Jaubert Francis, Broutin Isabelle, Counil François, Feldmann Delphine, Clement Annick, Polak Michel, Epaud Ralph

Abstract excerpt

NKX2-1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)-B and -C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786_787del2 (p.L263fs) in infants with closely similar severe interstitial lung disease (ILD), hypotonia, and congenital hypothyroidism. Functional analyses using A549...

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Share to Bronchoalveolar Lavage Fluid
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20020530
DOI: 10.1002/humu.21183

Genes

SFTPB
SFTPC

Variants

Provenance

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NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".PMID 20020530Read ↗

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