Article

A Novel Mutation of NONO-Associated X-linked Syndromic Intellectual Developmental Disorder-34 in a Fetus

2024-05-09

Abstract excerpt

<title>Abstract</title> <p>Background The <italic>NONO</italic> gene is located on chromosome Xq13.1 and encodes a nuclear protein involved in RNA synthesis, transcriptional regulation, and DNA repair. Hemizygous loss-of-function variants in NONO reportedly cause X-linked syndromic intellectual developmental disorder-34 (MRXS34) in males. At present, there are few clinical reports related to MRXS34, and the muta...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0956d6c1-360b-55d4-8ec1-1f137afc49e1
DOI: 10.21203/rs.3.rs-4348501/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel Mutation of NONO-Associated X-linked Syndromic Intellectual Developmental Disorder-34 in a FetusDOI 10.21203/rs.3.rs-4348501/v1Read

Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndromeSemantic proximity Read

A novel NONO nonsense variant in a fetus with renal abnormalitiesSemantic proximity Read

[Clinical and genetic analysis of a Chinese pedigree affected with MRXS34 syndrome due to variant of NONO gene].Semantic proximity Read

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.Semantic proximity Read

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.Semantic proximity Read

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male FetusSemantic proximity Read

Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort StudySemantic proximity Read

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.Semantic proximity Read

[Clinical and genetic analysis of a child with MRXS34 syndrome due to variant of NONO gene].Semantic proximity Read

A novel NONO variant that causes developmental delay and cardiac phenotypes.Semantic proximity Read

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.Semantic proximity Read

Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.Semantic proximity Read