Discover Community Create You

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

Article

Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission.

Molecular genetics & genomic medicine - 1 Sept 2021

Pan Nina, Chen Songchang, Cai Xiaoqiang, Li Jianli, Yu Tao, Huang He-Feng, Zhang Jinglan, Xu Chenming

Abstract excerpt

BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a severe neurodevelopmental disorder with multiple abnormalities. To date, all pathogenic variants in SMARCA2 causing NCBRS are de novo and most are missense variants located in the ATPase domain of SMARCA2 protein. METHODS: In this study, a familial trio whole-exome sequencing was performed on the proband presenting with intellectual disability, early-onset...

Read the complete abstract on PubMed

Topics

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

Share to Cells, Cultured
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Foot Deformities, Congenital

Share to Germ-Line Mutation

Share to Hypotrichosis

Share to Intellectual Disability

Share to Mosaicism

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 34296532
DOI: 10.1002/mgg3.1763
PMCID: PMC8457699

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission.PMID 34296532Read ↗

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.Semantic proximity Read ↗

[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].Semantic proximity Read ↗

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counselingSemantic proximity Read ↗

[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome].Semantic proximity Read ↗

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.Semantic proximity Read ↗

A Novel Variant of SMARCB1 in Rare Familial Schwannomatosis Identified by Whole-Exome Sequencing and Genotype-Phenotype Correlation Analysis.Semantic proximity Read ↗

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser SyndromeSemantic proximity Read ↗

New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.Semantic proximity Read ↗

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.Semantic proximity Read ↗

Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.Semantic proximity Read ↗

Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.Semantic proximity Read ↗

Title：Testicular yolk sac tumor in Coffin-Siris syndrome with a missense mutation in SMARCA4Semantic proximity Read ↗

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