{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T09:05:47Z","timestamp":1714381547160},"reference-count":26,"publisher":"Georg Thieme Verlag KG","issue":"08","funder":[{"name":"Centre Hospitalier Universitaire of Montpellier and in part by a grant from NovoNordisk","award":["n\u00b0010853\/HAEM\/4\/3"],"award-info":[{"award-number":["n\u00b0010853\/HAEM\/4\/3"]}]},{"name":"O Chafa in Algiers"},{"name":"INSERM-DPGRF"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thromb Haemost"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hereditary factor VII (FVII) deficiency is a rare autosomal recessive disorder. Deleterious mutations that prevent the synthesis of any amount of functional FVII have been associated with life-threatening haemorrhage in neonates. Here we report two infants, of Maghrebian origin, who suffered a fatal spontaneous cerebral haemorrhage. Investigation of the molecular basis for their severe FVII deficiency revealed novel mutations in a homozygous state within the F7 gene promoter: a single nucleotide substitution (c.-65G&gt;C) and a 2bp deletion (c.-60_-59delTT). To determine whether these promoter variants were responsible for the FVII deficiency, computer\u2013assisted sequence analyses were performed. The data predicted a disrupted binding of both HNF4 and COUP-TF transcription factors with each variant. Concordantly, experimental results revealed an altered HNF4-induced transactivation in the promoter mutated variants. The execution of functional tests is critical to ensuring a complete understanding of the effect of any promoter mutant on FVII deficiency. Only then can an accurate molecular diagnosis be made and further genetic counselling and prenatal diagnosis be offered.<\/jats:p>","DOI":"10.1160\/th11-09-0638","type":"journal-article","created":{"date-parts":[[2012,5,25]],"date-time":"2012-05-25T11:52:06Z","timestamp":1337946726000},"page":"277-283","source":"Crossref","is-referenced-by-count":4,"title":["Lethal factor VII deficiency due to novel mutations in the F7 promoter: Functional analysis reveals disruption of HNF4 binding 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