AUTHOR=Sciacca Francesca L. , Ciaccio Claudia , Fontana Federica , Strano Camilla , Gilardoni Francesca , Pantaleoni Chiara , D’Arrigo Stefano 

TITLE=Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00399

DOI=10.3389/fgene.2020.00399

ISSN=1664-8021

ABSTRACT=<p>Homozygous and compound heterozygous mutations in <italic>GNB5</italic> gene have been associated with a wide spectrum of clinical presentations, ranging from neurodevelopmental issues with or without cardiac arrhythmia (LADCI) to severe developmental delay with epileptic encephalopathy, retinal dystrophy, and heart rhythm abnormalities (IDDCA). While missense or missense/non-sense mutations usually lead to milder form, the biallelic loss of function of <italic>GNB</italic>5 gene causes the severe multisystemic IDDCA phenotype. So far, only 27 patients have been described with <italic>GNB5</italic>-associated disease. We report the first case of a patient carrying a homozygous 15q21.2 microdeletion, encompassing <italic>GNB5</italic> and the two contiguous genes <italic>BCL2L10</italic> and <italic>MYO5C</italic>. The clinical features of the child are consistent with the severe IDDCA phenotype, thus confirming the <italic>GNB5</italic> loss-of-function mechanism in determining such presentation of the disease.</p>