[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