Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.

doi:10.3390/genes12101583

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

Topics Community

Back to search

Article

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.

Genes - 7 Oct 2021

Phetthong Tim, Khongkrapan Arthaporn, Jinawath Natini, Seo Go-Hun, Wattanasirichaigoon Duangrurdee

Abstract excerpt

The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders. OTUD6B- and ZMIZ1-related ID are inherited in autosomal recessive and autosomal dominant patterns, respectively. We report a 5-year-old girl with developmental delay, facial phenotypes resembling Williams syndrome, and...

Topics

Alleles
Child, Preschool
Chromosome Deletion
Endopeptidases
Exome
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Infant
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Phenotype

Point Mutation

Transcription Factors

Exome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 34680978
DOI: 10.3390/genes12101583
PMCID: PMC8535745

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.PMID 34680978Read ↗

A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.Semantic proximity Read ↗

OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.Semantic proximity Read ↗

Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case.Semantic proximity Read ↗

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.Semantic proximity Read ↗

Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.Semantic proximity Read ↗

A Novel ZMIZ1 Pathogenic Variant in a Chinese Girl with Neurodevelopmental Disorder and Review of the LiteratureSemantic proximity Read ↗

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.Semantic proximity Read ↗

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.Semantic proximity Read ↗

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).Semantic proximity Read ↗

Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.Semantic proximity Read ↗

A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu-Boycott-Innes syndrome.Semantic proximity Read ↗

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