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Article Dans Une Revue Clinical Genetics Année : 2024

Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication

Anne‐laude Avice Denizet
  • Fonction : Auteur
Benoît Mazel
  • Fonction : Auteur
Gilles Morin
  • Fonction : Auteur
Florence Amram
  • Fonction : Auteur
Juliette Piard
Audrey Putoux
  • Fonction : Auteur
Mélanie Rama
  • Fonction : Auteur
Virginie Roze-Guillaumey
  • Fonction : Auteur
Caroline Schluth-Bolard
Marianne Till
  • Fonction : Auteur
Chloé Trouvé
  • Fonction : Auteur
Gaëlle Vieville
  • Fonction : Auteur
Caroline Rooryck
Damien Sanlaville
  • Fonction : Auteur
Nicolas Chatron

Résumé

Xq28 int22h‐1/int22h‐2 duplication is the result of non‐allelic homologous recombination between int22h‐1/int22h‐2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance. We collected data on 15 families from eight university hospitals. Among them, 40 patients, 21 females (one fetus), and 19 males (two fetuses), were carriers of typical or atypical Xq28 int22h‐1/int22h‐2 duplication. Twenty‐one individuals were considered asymptomatic (16 females and 5 males), without significantly higher rate of recurrent infections, atopia, overweight, or facial dysmorphism. Approximately 67% live‐born males and 23% live‐born female carriers of the typical duplication did not have obvious signs of intellectual disability, suggesting previously undescribed incomplete penetrance or low expression in certain carriers. The possibility of a second‐hit or modifying factors to this possible susceptibility locus is yet to be studied but a possible observational bias should be considered in assessing such challenging X‐chromosome copy number gains. Additional segregation studies should help to quantify this newly described incomplete penetrance.
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Dates et versions

hal-04546156 , version 1 (15-04-2024)

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Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, et al.. Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication. Clinical Genetics, 2024, ⟨10.1111/cge.14525⟩. ⟨hal-04546156⟩
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