Unknown

Dataset Information

0

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.


ABSTRACT: Homozygous and compound heterozygous pathogenic variants in GNB5 have been recently associated with a spectrum of clinical presentations varying from a severe multisystem form of the disorder including intellectual disability, early infantile developmental and epileptic encephalopathy, retinal abnormalities and cardiac arrhythmias (IDDCA) to a milder form with language delay, attention-deficit/hyperactivity disorder, cognitive impairment, with or without cardiac arrhythmia (LADCI). Approximately twenty patients have been described so far; here we report a novel case of a 2.5-year-old female who is a compound heterozygote for a frameshift and a missense variant in the GNB5 gene. Her clinical presentation is consistent with a moderate phenotype, corroborating the direct correlation between the type and pathogenic mechanism of the GNB5 genetic variant and the severity of related phenotype.

SUBMITTER: Malerba N 

PROVIDER: S-EPMC6315145 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

altmetric image

Publications

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

Malerba Natascia N   Towner Shelley S   Keating Katherine K   Squeo Gabriella Maria GM   Wilson William W   Merla Giuseppe G  

Frontiers in genetics 20181212


Homozygous and compound heterozygous pathogenic variants in <i>GNB5</i> have been recently associated with a spectrum of clinical presentations varying from a severe multisystem form of the disorder including intellectual disability, early infantile developmental and epileptic encephalopathy, retinal abnormalities and cardiac arrhythmias (IDDCA) to a milder form with language delay, attention-deficit/hyperactivity disorder, cognitive impairment, with or without cardiac arrhythmia (LADCI). Approx  ...[more]

Similar Datasets

| S-EPMC7204213 | biostudies-literature
| S-EPMC5409526 | biostudies-literature
| S-EPMC5874394 | biostudies-literature
| S-EPMC7349666 | biostudies-literature
| S-EPMC6348282 | biostudies-literature
| S-EPMC7181787 | biostudies-literature
| S-EPMC5117922 | biostudies-literature
| S-EPMC7308334 | biostudies-literature
| S-EPMC7249936 | biostudies-literature
| S-EPMC7881956 | biostudies-literature