De novo frameshift mutation inCOUP-TFII(NR2F2) in human congenital diaphragmatic hernia
نویسندگان
چکیده
منابع مشابه
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
Congenital diaphragmatic hernia (CDH) is a serious birth defect that accounts for 8% of all major birth anomalies. Approximately 40% of cases occur in association with other anomalies. As sporadic complex CDH likely has a significant impact on reproductive fitness, we hypothesized that de novo variants would account for the etiology in a significant fraction of cases. We performed exome sequenc...
متن کاملWhole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
BACKGROUND Congenital diaphragmatic hernia (CDH) is a common birth defect affecting 1 in 3000 births. It is characterised by herniation of abdominal viscera through an incompletely formed diaphragm. Although chromosomal anomalies and mutations in several genes have been implicated, the cause for most patients is unknown. METHODS We used whole exome sequencing in two families with CDH and cong...
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A one-month-old male terrier dog was referred in shock status with a history of anorexia, tachypnea, abdominal distention and progressive weight loss. Auscultation of right side of the lungs found enhanced respiratory noises. The thorough auscultation of the opposite side of the chest revealed the presence of typical intestinal sounds. Cardiac auscultation revealed muffled heart sounds and a di...
متن کاملCongenital diaphragmatic hernia.
Congenital diaphragmatic hernia (CDH) can be one of the most clinically challenging neonatal conditions. It occurs in 1 in 2-5000 live births in the UK with no predominance between the sexes. Herniation of abdominal contents into the thorax occurs, however it is the concomitant pulmonary hypoplasia and pulmonary hypertension that can be fatal. CDH was first described as an incidental finding at...
متن کاملCongenital Diaphragmatic Hernia
Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malfo...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2016
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37830