Biallelic EZH1 Nonsense Novel Variant in Two Siblings with Neurodevelopmental Disorder and Central Precocious Puberty: A Case Report from a Consanguineous Saudi Family.

doi:10.3390/ijms27167087

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Biallelic EZH1 Nonsense Novel Variant in Two Siblings with Neurodevelopmental Disorder and Central Precocious Puberty: A Case Report from a Consanguineous Saudi Family.

International journal of molecular sciences - 7 Aug 2026

Baity Mohamed, Alharbi Khalid, AlObeid Eman, AlBakheet Albandary, Mahnashi Mohammed, Arishi Ali, Tohary Mohamed, Arold Stefan T, Colak Dilek, Kaya Namik

Abstract excerpt

Neurodevelopmental disorders (NDDs) are a group of conditions that impair the development and function of the central nervous system. Recently, variants in the EZH1 gene have been associated with neurodevelopmental disorders. Here, using whole-exome sequencing coupled with confirmatory Sanger sequencing, we identified a homozygous nonsense variant in EZH1 in two affected siblings. Both parents were heterozygous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Neurodevelopmental Disorders

Share to Pedigree

Share to Puberty, Precocious

Share to Saudi Arabia

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 42653090
DOI: 10.3390/ijms27167087
PMCID: PMC13512644

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.