ArticleEuropean journal of human genetics : EJHG2015
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12).Frontiers in genetics · 2026Article
- Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report.Cureus · 2025Article
- [Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.BMC pediatrics · 2025Review
- Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.Archives of gynecology and obstetrics · 2024Article
- Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.Journal of autism and developmental disorders · 2024Review
- Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.Genes · 2023Article
- Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.Genes · 2022Review
- Distinct promoter regions of the oxytocin receptor gene are hypomethylated in Prader-Willi syndrome and in Prader-Willi syndrome associated psychosis.Translational psychiatry · 2022Article
- Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.Frontiers in genetics · 2022Article
- Article
- Pathogenic variants inCold Spring Harbor molecular case studies · 2020Article
- De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.Journal of human genetics · 2020Article
- Duplications in 19p13.3 are associated with male infertility.Journal of assisted reproduction and genetics · 2019Article
- Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.European journal of human genetics : EJHG · 2018Article
- Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.Case reports in genetics · 2018Article
- Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review.Journal of pediatric genetics · 2017Article
- RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.American journal of human genetics · 2017Article
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Authors and funding
39 authors at 18 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'genotype first' approach using aCGH on 13 unrelated patients with 19p13.3 submicroscopic rearrangement (11 deletions and 2 duplications) and review cases in the literature and in public databases. Shared phenotypic features suggest that these patients represent an interstitial microdeletion/microduplication syndrome at 19p13.3. Common features consist of abnormal head circumference in most patients (macrocephaly with the deletions and microcephaly with the duplications), ID with developmental delay (DD), hypotonia, speech delay and common dysmorphic features. The phenotype is associated with at least a ~0.113 Mb critical region harboring three strong candidate genes probably associated with DD, ID, speech delay and other dysmorphic features: MAP2K2, ZBTB7A and PIAS4, an E3 ubiquitin ligase involved in the ubiquitin signaling pathways, which we hypothesize for the first time to be associated with head size in humans.
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