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Article Dans Une Revue Clinical Genetics Année : 2023

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

Julie Masson
  • Fonction : Auteur
Céline Pebrel-Richard
  • Fonction : Auteur
Matthieu Egloff
  • Fonction : Auteur
Mathilde Frétigny
  • Fonction : Auteur
Marion Beaumont
  • Fonction : Auteur
Kevin Uguen
Flavie Diguet
  • Fonction : Auteur
Isabelle Perthus
  • Fonction : Auteur
Gwenaël Le Gudayer
  • Fonction : Auteur
Damien Haye
  • Fonction : Auteur
Audrey Putoux
  • Fonction : Auteur
Fabienne Raskin-Champion
  • Fonction : Auteur
Marianne Till
  • Fonction : Auteur
Nicolas Chatron
Bérénice Doray
  • Fonction : Auteur
Christine Vinciguerra
  • Fonction : Auteur
Damien Sanlaville
  • Fonction : Auteur
Caroline Schluth-Bolard

Résumé

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.

Dates et versions

hal-04382969 , version 1 (09-01-2024)

Identifiants

Citer

Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, et al.. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical Genetics, 2023, 103 (4), pp.401-412. ⟨10.1111/cge.14291⟩. ⟨hal-04382969⟩
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