Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects
نویسندگان
چکیده
منابع مشابه
Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
GATA binding protein 6 (GATA6) encodes a zinc‑finger transcription factor that is essential for normal heart development. Mutations in this gene lead to conotruncal heart defects associated with cyanotic congenital heart disease; however, it remains unclear whether the mutations in GATA6 are also responsible for the development of the nonsyndromic conotruncal heart defects. The coding region exo...
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Despite considerable advances in the detection of genomic abnormalities in congenital heart disease (CHD), the etiology of CHD remains largely unknown. CHD is the most common birth defect and is a major cause of infant morbidity and mortality, and conotruncal defects constitute 20% of all CHD cases. We used array comparative genomic hybridization (array-CGH) to retrospectively study 60 subjects...
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OBJECTIVES This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also considered. BACKGROUND Chromosome 22q11 deletions are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face ...
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ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2014
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2014.2247