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

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

American journal of medical genetics. Part A - 1 Jan 2020

Assia Batzir Nurit, Posey Jennifer E, Song Xiaofei, Akdemir Zeynep Coban, Rosenfeld Jill A, Brown Chester W, Chen Emily, Holtrop Shannon G, Mizerik Elizabeth, Nieto Moreno Margarita, Payne Katelyn, Raas-Rothschild Annick, Scott Richard, Vernon Hilary J, Zadeh Neda, Lupski James R, Sutton V Reid

Abstract excerpt

White-Sutton syndrome (WHSUS) is a recently-identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and data regarding the natural history are still incomplete. Here we report the clinical features of 22 individuals with 21 unique loss of function POGZ variants. We observed a broad...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Heterozygote

Share to Intellectual Disability

Share to Language Development Disorders

Share to Microcephaly

Share to Transposases

Source

Open in PubMed Open full text

Identifiers

PMID: 31782611
DOI: 10.1002/ajmg.a.61380
PMCID: PMC7713511

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

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).PMID 31782611Read ↗

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.Semantic proximity Read ↗

A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ.Semantic proximity Read ↗

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.Semantic proximity Read ↗

Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.Semantic proximity Read ↗

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.Semantic proximity Read ↗

Discriminative features in White-Sutton syndrome: literature review and first report in Iran.Semantic proximity Read ↗

White-Sutton syndrome and congenital heart disease: case report and literature review.Semantic proximity Read ↗

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.Semantic proximity Read ↗

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.Semantic proximity Read ↗

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.Semantic proximity Read ↗

POGZ truncating alleles cause syndromic intellectual disability.Semantic proximity Read ↗

Hao-Fountain Syndrome: 32 novel patients reveal new insights into the clinical spectrumSemantic proximity Read ↗

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