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Communication Dans Un Congrès Année : 2022

10q26 deletion syndrome: a French cohort study

Thierry Frebourg
  • Fonction : Auteur
Alice Goldenberg
  • Fonction : Auteur
Anne-Marie Guerot
  • Fonction : Auteur
Nathalie Le Meur
  • Fonction : Auteur
Kevin Cassinari
  • Fonction : Auteur

Résumé

10q26 deletion syndrome (OMIM #609625) is a rare autosomal dominant genetic disorder with about 100 patients reported. Most cases are sporadic. Global development delay, short stature, microcephaly and typical facial appearance with triangular face, large forehead, low-set malformed ears, hypertelorism, prominent nose and a thin vermilion of the upper lip constitute the main clinical features. The clinical spectrum is very heterogeneous and neurobehavioral manifestations, deafness, limb malformations, cardiac and urogenital abnormalities can be associated. Thus, patients with 10q26 chromosomal deletion need multidisciplinary management strategies from birth. One of the main reasons for this heterogeneity is the variety of 10qter region chromosomal deletions summarized into the “10q26 deletion syndrome”. Various studies proposed critical regions to explain the main phenotype (Yatzenko et al., 2009; Choucair et al., 2015; Lin S et al., 2016) or more specific features (Vera-Carbonell et al., 2015; Choucair et al., 2015). In addition, these studies proposed about 20 genes of interest such as DOCK1 and FGFR2 to explain the different clinical features observed. We report a French ACLF cohort of 35 patients from 9 centers presenting 10q26 complete or partial deletions (size: 64kb to 12.5Mb), complex chromosomal rearrangement and derivative chromosomes diagnosed using DNA-array, to bring a further insight of the genotype/phenotype correlation.
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Dates et versions

hal-03693284 , version 1 (10-06-2022)

Identifiants

  • HAL Id : hal-03693284 , version 1

Citer

Hugo Thorn, Sylvie Odent, Jonathan Levy, Anne-Claude Tabet, Julien Thevenon, et al.. 10q26 deletion syndrome: a French cohort study. 54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324. ⟨hal-03693284⟩
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