Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect

Amélie Pinard (1) , Nathalie Eudes (1) , Julia Mitchell , Fanny Bajolle , Maude Grelet (1) , Josephine Okoronkwo , Damien Bonnet , Gwenaëlle Collod-Béroud (1) , Stéphane Zaffran (1)

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart diseases found at birth. HOXB1 encodes a homeodomain transcription factor essential for normal cardiac outflow tract development. The aim of the present study was to investigate the possible genetic effect of sequence variations in HOXB1 on VSD. The coding regions and splice junctions of the HOXB1 gene were sequenced in 57 unrelated VSD patients. As a result, a homozygous c.74\₈2dup (p.Pro28delinsHisSerAlaPro) variant was identified in one individual with DORV. We also identified five previously reported polymorphisms (rs35114525, rs12946855, rs14534040, rs12939811, and rs7207109) in 18 patients (12 DORV and 6 perimembranous VSD). Our study did not show any pathogenic alterations in the coding region of HOXB1 among patients with VSD. To our knowledge this is the first study investigating the role of HOXB1 in nonsyndromic VSD, which provide more insight on the etiology of this disease.

Mots clés: HOXB1; Ventricular septal defect; Congenital heart disease; Variant; Genetics

Domaines: Génétique humaine

Amélie Pinard, Nathalie Eudes, Julia Mitchell, Fanny Bajolle, Maude Grelet, et al.. Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect. MOLECULAR BIOLOGY REPORTS, 2018, 45 (5), pp.1507-1513. ⟨10.1007/s11033-018-4212-x⟩. ⟨hal-01991345⟩