Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.

Fiche publication

Date publication

janvier 2019

Journal

Frontiers in immunology

Auteurs

Membres identifiés du Cancéropôle Est :
Dr FOUYSSAC Fanny , Dr BONNET Céline

Tous les auteurs :
Sloboda N, Sorlin A, Valduga M, Beri-Dexheimer M, Bilbault C, Fouyssac F, Becker A, Lambert L, Bonnet C, Leheup B

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/31474980

Résumé

We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion. Two siblings patients presented a similar familial imbalanced translocation, originating from a balanced maternal translocation, with deletions of 7p22 and of 15q11 [arr[GRCh37] 7p22.3-p22.2(42976-3736851)x1, 15q11.1-q11.2(20172544-24979427)x1]. We used aCGH array, FISH, and karyotype for studying the phenotype of the two patients. The 7p22 deletion (3.5 Mb) contained 58 genes, including several OMIM genes. Patients 1 and 2 exhibited acquisition delays, morphological particularities, and hypogammaglobulinemia, which was more severe in patient 1. Patient 1 presented also with cerebral vasculitis. We discuss here how the PDGFa, CARD11, LFNG, GPER1, and MAFK genes, included in the deletion 7p22, could be involved in the clinical and biological features of the two patients.