ArticleEuropean journal of human genetics : EJHG2019
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing.Frontiers in psychiatry · 2025Article
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- Article
- The epigenetic reader PHF21B modulates murine social memory and synaptic plasticity-related genes.JCI insight · 2022Article
- Bridging between Mouse and Human Enhancer-Promoter Long-Range Interactions in Neural Stem Cells, to Understand Enhancer Function in Neurodevelopmental Disease.International journal of molecular sciences · 2022Article
- Novel Pathogenic Variant (c.1171A>T) inMolecular syndromology · 2022Article
- 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.BMC medical genomics · 2021Article
- New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.Brain sciences · 2020Review
- A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.Annals of clinical and translational neurology · 2020Article
- Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.Molecular autism · 2019Article
Corrections and comments
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Authors and funding
21 authors at 7 institutions in 2 countries.
Funding
Abstract
Potocki-Shaffer syndrome (PSS) is a contiguous gene syndrome caused by 11p11.2 deletions. PSS is clinically characterized by intellectual disability, craniofacial anomalies, enlarged parietal foramina, and multiple exostoses. PSS occasionally shows autism spectrum disorder, epilepsy, and overgrowth. Some of the clinical features are thought to be associated with haploinsufficiency of two genes in the 11p11.2 region; variants affecting the function of ALX4 cause enlarged parietal foramina and EXT2 lead to multiple exostoses. However, the remaining clinical features were still yet to be linked to specific genetic alterations. In this study, we identified de novo truncating variants in an 11p11.2 gene, PHF21A, in three cases with intellectual disability and craniofacial anomalies. Among these three cases, autism spectrum disorder was recognized in one case, epilepsy in one case, and overgrowth in two cases. This study shows that PHF21A haploinsufficiency results in intellectual disability and craniofacial anomalies and possibly contributes to susceptibility to autism spectrum disorder, epilepsy, and overgrowth, all of which are PSS features.
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