Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

doi:10.1016/j.gim.2023.101057

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 loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2024

Scala Marcello, Khan Kamal, Beneteau Claire, Fox Rachel G, von Hardenberg Sandra, Khan Ayaz, Joubert Madeleine, Fievet Lorraine, Musquer Marie, Le Vaillant Claudine, Holsclaw Julie Korda, Lim Derek, Berking Ann-Cathrine, Accogli Andrea, Giacomini Thea, Nobili Lino, Striano Pasquale, Zara Federico, Torella Annalaura, Nigro Vincenzo, Cogné Benjamin, Salick Max R, Kaykas Ajamete, Eggan Kevin, Capra Valeria, Bézieau Stéphane, Davis Erica E, Wells Michael F

Abstract excerpt

PURPOSE: We established the genetic etiology of a syndromic neurodevelopmental condition characterized by variable cognitive impairment, recognizable facial dysmorphism, and a constellation of extra-neurological manifestations. METHODS: We performed phenotypic characterization of 6 participants from 4 unrelated families presenting with a neurodevelopmental syndrome and used exome sequencing to investigate the...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Intellectual Disability

Share to Musculoskeletal Abnormalities

Share to Neurodevelopmental Disorders

Share to Phenotype

Share to Syndrome

Share to Zebrafish

Source

Open in PubMed

Identifiers

PMID: 38158856
DOI: 10.1016/j.gim.2023.101057

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

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.PMID 38158856Read ↗

Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia.Semantic proximity Read ↗

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.Semantic proximity Read ↗

Biallelic Variants in<i>CCN2</i>Underlie an Autosomal Recessive Kyphomelic DysplasiaSemantic proximity Read ↗

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.Semantic proximity Read ↗

Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.Semantic proximity Read ↗

Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes.Semantic proximity Read ↗

Missense and nonsense mutations of the zebrafish <i>hcfc1a</i> gene result in contrasting mTor and radial glial phenotypesSemantic proximity Read ↗

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Semantic proximity Read ↗

Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.Semantic proximity Read ↗

Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular PerspectiveSemantic proximity Read ↗

FBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell developmentSemantic proximity Read ↗

FBXW11 Activity Regulates Radial Glial Expansion in Human Cerebral OrganoidsSemantic proximity Read ↗

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