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Molecular Biology Reports

, Volume 45, Issue 5, pp 1507–1513 | Cite as

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

  • Amélie Pinard
  • Nathalie Eudes
  • Julia Mitchell
  • Fanny Bajolle
  • Maude Grelet
  • Joséphine Okoronkwo
  • Damien Bonnet
  • Gwenaelle Collod-Béroud
  • Stéphane Zaffran
Short Communication
  • 88 Downloads

Abstract

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.

Keywords

Genetics Ventricular septal defect HOXB1 Variant Congenital heart disease 

Notes

Acknowledgements

This work was supported by “AFM-Telethon” (MNH-Decrypt) and “ANR” (ANR-13-BSV2-0003) grants. A.P. received a PhD fellowship by the AFSMa (Association Française des Syndromes de Marfan et Apparentés). CARREG (http://carreg.fr/en/) is supported by the Fondation cœur et artères and the Association pour la Recherche en Cardiologie du Fœtus à l’Adulte (ARCFA).

Author Contributions

AP, NE, MG, JM, and JO performed the experiments. GC-B supervised the genetic and statistical analysis and drafted parts of the manuscript. FB and DB coordinated the CARREG protocol and validated the diagnosis of patients. SZ coordinate the genetic investigation and wrote the manuscript.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008. The study subjects included seventy-seven patients from the Necker-Enfants Malades Hospital. This study was approved by the Committee for the Protection of Persons (Comité de Protection des Personnes (CPP) Paris, France No. 2009-164).

Informed consent

Informed consent was obtained from all patients for being included in the study.

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Copyright information

© Springer Nature B.V. 2018

Authors and Affiliations

  • Amélie Pinard
    • 1
    • 6
  • Nathalie Eudes
    • 1
  • Julia Mitchell
    • 1
    • 2
  • Fanny Bajolle
    • 3
    • 4
  • Maude Grelet
    • 1
  • Joséphine Okoronkwo
    • 3
    • 4
  • Damien Bonnet
    • 3
    • 4
  • Gwenaelle Collod-Béroud
    • 1
  • Stéphane Zaffran
    • 1
    • 5
  1. 1.Aix Marseille Université, INSERM U1251, MMGMarseilleFrance
  2. 2.Service de Chirurgie des Cardiopathies CongénitalesHôpital Cardiologique Louis PradelLyonFrance
  3. 3.Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Unité Médico-Chirurgicale de Cardiologie Congénitale et PédiatriqueAP-HP, Hôpital Necker-Enfants-MaladesParisFrance
  4. 4.Université Paris Descartes, Sorbonne Paris CitéParisFrance
  5. 5.Faculté de Médecine, Aix Marseille Université, INSERM U1251, Marseille Medical GeneticsMarseilleFrance
  6. 6.Department of Internal MedicineUniversity of Texas Health Science Center at HoustonHoustonUSA

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