XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

doi:10.1038/s41431-025-01821-0

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

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

European journal of human genetics : EJHG - 1 Jul 2025

Cuinat Silvestre, Chatron Nicolas, Petit Florence, Brunelle Perrine, Dincuff Etienne, Aubert Mucca Marion, Bieth Eric, Schmetz Ariane, Rieder Harald, Wollnik Bernd, Kaulfuß Silke, Yigit Gökhan, McKeown Colina, Savage Tim, Mulligan Meghan R, Bicknell Louise S, Corsten-Janssen Nicole, Edery Patrick, Lesca Gaetan, de Villartay Jean-Pierre, Putoux Audrey

Abstract excerpt

The non-homologous end joining (NHEJ) pathway is essential to repair DNA double-strand breaks. XRCC4 acts as a stabilizer of the DNA ligase LIG4 in the NHEJ process. In humans, XRCC4 pathogenic variants are responsible for a microcephalic primordial dwarfism syndrome (MPD). Currently, 17 patients have been reported with XRCC4-related MPD and we report 7 new patients from 6 different families, including one fetus....

Read the complete abstract on PubMed

Topics

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

Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Child, Preschool

Share to DNA-Binding Proteins

Share to DNA Ligase ATP

Share to Dwarfism

Share to Fetal Growth Retardation

Share to Microcephaly

Source

Open in PubMed Open full text

Identifiers

PMID: 40114033
DOI: 10.1038/s41431-025-01821-0
PMCID: PMC12229645

Genes

XRCC4
LIG4

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.PMID 40114033Read ↗

Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.Semantic proximity Read ↗

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.Semantic proximity Read ↗

Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.Semantic proximity Read ↗

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.Semantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.Semantic proximity Read ↗

Genomic analysis of primordial dwarfism reveals novel disease genes.Semantic proximity Read ↗

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).Semantic proximity Read ↗

Novel mutation in Patients with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)Semantic proximity Read ↗

RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndromeSemantic proximity Read ↗

Extreme growth failure is a common presentation of ligase IV deficiency.Semantic proximity Read ↗

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewSemantic proximity Read ↗

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.Semantic proximity Read ↗

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