Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

doi:10.1136/jmedgenet-2021-107871

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

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Journal of medical genetics - 1 Jul 2022

Acharya Anushree, Kavus Haluk, Dunn Patrick, Nasir Abdul, Folk Leandra, Withrow Kara, Wentzensen Ingrid M, Ruzhnikov Maura R Z, Fallot Camille, Smol Thomas, Rama Mélanie, Brown Kathleen, Whalen Sandra, Ziegler Alban, Barth Magali, Chassevent Anna, Smith-Hicks Constance, Afenjar Alexandra, Courtin Thomas, Heide Solveig, Font-Montgomery Esperanza, Heid Caleb, Hamm J Austin, Love Donald R, Thabet Farouq, Misra Vinod K, Cunningham Mitch, Leal Suzanne M, Jarvela Irma, Normand Elizabeth A, Zou Fanggeng, Helal Mayada, Keren Boris, Torti Erin, Chung Wendy K, Schrauwen Isabelle

Abstract excerpt

BACKGROUND: Variants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defined. METHODS: Molecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals...

Read the complete abstract on PubMed

Topics

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

Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Intellectual Disability

Share to Muscle Hypotonia

Share to Neurodevelopmental Disorders

Share to Phenotype

Share to Seizures

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed

Identifiers

PMID: 34321324
DOI: 10.1136/jmedgenet-2021-107871

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.PMID 34321324Read ↗

A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.Semantic proximity Read ↗

Mutations in HECW2 are associated with intellectual disability and epilepsy.Semantic proximity Read ↗

De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.Semantic proximity Read ↗

Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.Semantic proximity Read ↗

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.Semantic proximity Read ↗

ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.Semantic proximity Read ↗

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

Genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort: insights from whole-exome sequencing.Semantic proximity Read ↗

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneitySemantic proximity Read ↗

First reported case of an inherited PACS2 pathogenic variant with variable expressionSemantic proximity Read ↗

Population-specific variant spectrum and epilepsy outcomes in IQSEC2-related neurodevelopmental disorder: a Chinese pediatric cohortSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.