Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis / Yessine Amri ; Sana Aboulkacem ; Rym Dabboubi ; Manel Ayoub ; Oussema Lamine ; Mariem Othmani ; Zied Aouni ; Taieb Messaoud ; Chakib Mazigh in Annales de Biologie Clinique, Vol. 81, n° 2 (mars-avril 2023)

Public ISBD [article]  inAnnales de Biologie Clinique > Vol. 81, n° 2 (mars-avril 2023) . - p. 204-209 Titre : Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis Auteurs : Yessine Amri ; Sana Aboulkacem ; Rym Dabboubi ; Manel Ayoub ; Oussema Lamine ; Mariem Othmani ; Zied Aouni ; Taieb Messaoud ; Chakib Mazigh Année de publication : 2023 Article en page(s) : p. 204-209 Note générale : DOI : 10.1684/abc.2023.1806 Langues : Anglais (eng) Mots-clés : Nucléotides Résumé : Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence. Our findings contribute to shed light on the clinical characteristics and biochemical parameters of this disease and confirm that cardiovascular complications must be taken seriously in this pathology. Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetics variations affect RNA transcription and mRNA folding. Permalink : ./index.php?lvl=notice_display&id=110811 [article] Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis [] / Yessine Amri ; Sana Aboulkacem ; Rym Dabboubi ; Manel Ayoub ; Oussema Lamine ; Mariem Othmani ; Zied Aouni ; Taieb Messaoud ; Chakib Mazigh . - 2023 . - p. 204-209. DOI : 10.1684/abc.2023.1806 Langues : Anglais (eng) in Annales de Biologie Clinique > Vol. 81, n° 2 (mars-avril 2023) . - p. 204-209 Mots-clés : Nucléotides Résumé : Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence. Our findings contribute to shed light on the clinical characteristics and biochemical parameters of this disease and confirm that cardiovascular complications must be taken seriously in this pathology. Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetics variations affect RNA transcription and mRNA folding. Permalink : ./index.php?lvl=notice_display&id=110811

Exemplaires (1)

Cote	Support	Localisation	Section	Disponibilité
Revue	Revue	Centre de Documentation HELHa Campus Montignies	Armoires à volets	Document exclu du prêt - à consulter sur place Exclu du prêt

---

1 (1 - 1 / 1)