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Article

Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder.

Journal of neurogenetics - 1 Mar 2024

Asghari Sarfaraz Asal, Jabbarpour Neda, Bonyadi Mortaza, Khalaj-Kondory Mohammad

Abstract excerpt

HERC2-associated neurodevelopmental-disorders(NDD) encompass a cluster of medical conditions that arise from genetic mutations occurring within the HERC2 gene. These disorders can manifest a spectrum of symptoms that impact the brain and nervous system, including delayed psychomotor development, severe mental retardation, seizures and autistic features. Whole-Exome-Sequencing(WES) was performed on a ten-year-old...

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Child
Computational Biology
Exome Sequencing
HERC2 gene
Guanine Nucleotide Exchange Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Ubiquitin-Protein Ligases

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Identifiers

PMID: 38884635
DOI: 10.1080/01677063.2024.2365634

Genes

HERC2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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