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      https://www.ias.ac.in/article/fulltext/jgen/100/0005

    • Keywords

       

      tetralogy of Fallot; DiGeorge syndrome; 22q11.2 deletion; conotruncal defect.

    • Abstract

       

      The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability.The main clinical features are congenital heart defects, palatal abnormalities, learning disability, facial dysmorphisms and immunedeficiency. In 85–90% of cases, the 22q11.2 DGS is caused by a heterozygous ${\sim}$ 3-Mb deletion, including the TBX1 gene, considered oneof the major genes responsible for heart defects. Individuals with atypical deletions with at least one breakpoint outside low copy repeatshave been reported. Our patient is a child presenting tetralogy of Fallot (TOF) with an atypical 22q11.2 deletion proximal to the criticalDiGeorge region. The rearrangement was inherited from the healthy mother and spanned ${\sim}$ 642–970 kb, encompassing DGCR6 and PRODH, two novel possible candidate genes for conotruncal heart defects.

    • Author Affiliations

       

      DIANA CARLI1 ALICE MORONI2 DI GREGORIO ELEONORA2 ANDREA ZONTA2 DAVIDE MONTIN3 FRANCESCO LICCIARDI3 ENRICO AIDALA4 ROBERTO BORDESE5 PACE NAPOLEONE CARLO4 ALFREDO BRUSCO2 6 FERRERO GIOVANNI BATTISTA1 ALESSANDRO MUSSA1

      1. Clinical Pediatric Genetics, Department of Public Health Sciences and Pediatrics, University of Torino, 10126 Torino, Italy
      2. Medical Genetics Unit, Citta` della Salute e della Scienza University Hospital, 10126 Torino, Italy
      3. Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, Regina Margherita Children’s Hospital, University of Torino, 10126 Torino, Italy
      4. Pediatric Cardiac Surgery, Regina Margherita Children’s Hospital, 10126 Torino, Italy
      5. Pediatric Cardiology, Regina Margherita Children’s Hospital, 10126 Torino, Italy
      6. Department of Medical Sciences, University of Torino, 10126 Torino, Italy

    • Dates

       
      Published
      10 February 2021
      Manuscript received
      17 August 2020
      Manuscript revised
      25 September 2020
      Accepted
      30 September 2020
      Final version published online
      10 February 2021

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