* A novel mutation in GATA6 causes pancreatic agenesis.
- Heterozygous mutations in GATA6 have been linked to pancreatic agenesis and cardiac malformations. The aim of this study was to describe a new mutation in GATA6 in an infant with pancreatic agenesis, associated with truncus arteriosus and absent gallbladder. Clinical data were obtained from chart review. Gene sequencing was performed on genomic DNA. The patient was a female infant diagnosed shortly after birth with a severe cardiac malformation, absent gallbladder, anomalous hepatic blood flow, unilateral hydronephrosis and hydroureter, neonatal diabetes, and pancreatic exocrine insufficiency. Despite prolonged intensive management care, she died at 3 months of age because of cardiac complications. Analysis of her genomic DNA revealed a novel missense mutation of GATA6. The novel mutation described in this case extends the list of GATA6 mutations causing pancreatic agenesis and cardiac malformations.
Overview of verb reveal
The verb reveal has 3 senses (first 2 from tagged texts)
1. (34) uncover, bring out, unveil, reveal -- (make visible; "Summer brings out bright clothes"; "He
brings out the best in her")
2. (17) unwrap, disclose, let on, bring out, reveal, discover, expose, divulge, break, give away,
let out -- (make known to the public information that was previously known only to a few people or
that was meant to be kept a secret; "The auction house would not disclose the price at which the van
Gogh had sold"; "The actress won't reveal how old she is"; "bring out the truth"; "he broke the news
to her"; "unwrap the evidence in the murder case")
3. reveal -- (disclose directly or through prophets; "God rarely reveal his plans for Mankind")
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