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Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Masson, Julie; Pebrel-Richard, Céline; Egloff, Matthieu; Frétigny, Mathilde; Beaumont, Marion; Uguen, Kevin; Rollat-Farnier, Pierre-Antoine; Diguet, Flavie; Perthus, Isabelle; Le Gudayer, Gwenaël; Haye, Damien; Dupeyron, Marie-Noëlle Bonnet; Putoux, Audrey; Raskin-Champion, Fabienne; Till, Marianne; Chatron, Nicolas; Doray, Bérénice; Bardel, Claire; Vinciguerra, Christine; Sanlaville, Damien; Schluth-Bolard, Caroline.
Afiliação
  • Masson J; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Pebrel-Richard C; Team Energetic Metabolism and Neuronal Development, Neuromyogene Institute, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.
  • Egloff M; Service de Cytogénétique, CHU Clermont-Ferrand, Clermont-Ferrand, France.
  • Frétigny M; Service de Génétique, CHU de Poitiers, Poitiers, France.
  • Beaumont M; Service d'hématologie, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.
  • Uguen K; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Rollat-Farnier PA; Genetics and NIPT, Laboratoire Eylau-Unilabs, Neuilly-sur-Seine, France.
  • Diguet F; UMR 1078, GGB, CHU Brest, Inserm, Univ Brest, EFS, Brest, France.
  • Perthus I; Service de Génétique Médicale, CHRU de Brest, Brest, France.
  • Le Gudayer G; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Haye D; Plateforme NGS, Hospices Civils de Lyon, Bron, France.
  • Dupeyron MB; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Putoux A; Service de Génétique Médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.
  • Raskin-Champion F; Service de Génétique, CHU de Poitiers, Poitiers, France.
  • Till M; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Chatron N; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Doray B; Service de Génétique, CH de Valence, Valence, France.
  • Bardel C; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Vinciguerra C; Service de Gynécologie Médicale et Obstétrique, Groupement Hospitalier Sud, Hospices Civils de Lyon, Pierre-Bénite, France.
  • Sanlaville D; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
  • Schluth-Bolard C; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.
Clin Genet ; 103(4): 401-412, 2023 04.
Article em En | MEDLINE | ID: mdl-36576162
ABSTRACT
Chromoanagenesis is a cellular mechanism that leads to complex chromosomal rearrangements (CCR) during a single catastrophic event. It may result in loss and/or gain of genetic material and may be responsible for various phenotypes. These rearrangements are usually sporadic. However, some familial cases have been reported. Here, we studied six families in whom an asymptomatic or paucisymptomatic parent transmitted a CCR to its offspring in an unbalanced manner. The rearrangements were characterized by karyotyping, fluorescent in situ hybridization, chromosomal microarray (CMA) and/or whole genome sequencing (WGS) in the carrier parents and offspring. We then hypothesized meiosis-pairing figures between normal and abnormal parental chromosomes that may have led to the formation of new unbalanced rearrangements through meiotic recombination. Our work indicates that chromoanagenesis might be associated with a normal phenotype and normal fertility, even in males, and that WGS may be the only way to identify these events when there is no imbalance. Subsequently, the CCR can be transmitted to the next generation in an unbalanced and unpredictable manner following meiotic recombination. Thereby, prenatal diagnosis using CMA should be proposed to these families to detect any pathogenic imbalances in the offspring.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rearranjo Gênico / Aberrações Cromossômicas Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rearranjo Gênico / Aberrações Cromossômicas Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article