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Mol Biol Rep. 2018 Jun 19. doi: 10.1007/s11033-018-4212-x. [Epub ahead of print]

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

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Aix Marseille Université, INSERM U1251, MMG, Marseille, France.
Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.
Service de Chirurgie des Cardiopathies Congénitales, Hôpital Cardiologique Louis Pradel, Avenue du Doyen Lépine, 69394, Lyon, France.
Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, AP-HP, Hôpital Necker-Enfants-Malades, Paris, France.
Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Aix Marseille Université, INSERM U1251, MMG, Marseille, France.
Faculté de Médecine, Aix Marseille Université, INSERM U1251, Marseille Medical Genetics, 27 Bd Jean Moulin, 13005, Marseille, France.


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.


Congenital heart disease; Genetics; HOXB1; Variant; Ventricular septal defect


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