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 immune deficiency. In 85-90% of cases, the 22q11.2 DGS is caused by a heterozygous ~3-Mb deletion, including the TBX1 gene, considered one of the major genes responsible for heart defects. Individuals with atypical deletions with at least one breakpoint outside low copy repeats have been reported. Our patient is a child presenting tetralogy of Fallot (TOF) with an atypical 22q11.2 deletion proximal to the critical DiGeorge region. The rearrangement was inherited from the healthy mother and spanned ~642-970 kb, encompassing DGCR6 and PRODH, two novel possible candidate genes for conotruncal heart defects.

Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot

Carli, Diana;Moroni, Alice;Eleonora, Di Gregorio;Zonta, Andrea;Montin, Davide;Licciardi, Francesco;Aidala, Enrico;Bordese, Roberto;Brusco, Alfredo;Giovanni Battista, Ferrero;Mussa, Alessandro
2021

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 immune deficiency. In 85-90% of cases, the 22q11.2 DGS is caused by a heterozygous ~3-Mb deletion, including the TBX1 gene, considered one of the major genes responsible for heart defects. Individuals with atypical deletions with at least one breakpoint outside low copy repeats have been reported. Our patient is a child presenting tetralogy of Fallot (TOF) with an atypical 22q11.2 deletion proximal to the critical DiGeorge region. The rearrangement was inherited from the healthy mother and spanned ~642-970 kb, encompassing DGCR6 and PRODH, two novel possible candidate genes for conotruncal heart defects.
JOURNAL OF GENETICS
100
1
1
4
https://www.ias.ac.in/article/fulltext/jgen/100/0005
tetralogy of Fallot; DiGeorge syndrome; 22q11.2 deletion; conotruncal defect
Carli, Diana; Moroni, Alice; Eleonora, Di Gregorio; Zonta, Andrea; Montin, Davide; Licciardi, Francesco; Aidala, Enrico; Bordese, Roberto; Carlo, Pace Napoleone; Brusco, Alfredo; Giovanni Battista, Ferrero; Mussa, Alessandro
File in questo prodotto:
File Dimensione Formato  
171. Atypical 22q21_JPed2021.pdf

non disponibili

Tipo di file: PDF EDITORIALE
Dimensione 230.45 kB
Formato Adobe PDF
230.45 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/1784857
Citazioni
  • ???jsp.display-item.citation.pmc??? 1
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 2
social impact