Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.

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Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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3 authors.

Dibyendu DuttaDivision of Hematology and Oncology, Department of Medicine, State University of New York Upstate Medical University, Syracuse, NY 13210, USA.ORCID 0009-0003-8537-2515

Xi LuoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0002-1941-2318

Ria GargCenter of Development, Behavior, and Genetics, State University of New York Upstate Medical University, Syracuse, NY 13210, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDuplications involving Xp22.33, particularly within the pseudoautosomal region 1 (PAR1), are rare. While copy number variants (CNVs) involving CASE PRESENTATION: We report a male patient with a 2.49 Mb duplication encompassing nearly the entire PAR1 region (chrX:200854-2692897, GRCh37). Clinical features included global developmental delay (GDD), autism spectrum disorder (ASD), recurrent seizures, hypotonia with joint hypermobility, dysmorphic features, and proportionate tall stature. The duplicated segment contains 30 genes, including 15 protein-coding genes that escape X-inactivation. Among these,

conclusionsThis report presents a detailed clinical characterization of a rare, near-complete, isolated PAR1 duplication in a male individual. The co-occurrence of tall stature, GDD, ASD, and seizures raises the possibility of a dosage-related phenotypic effect involving one or more genes within the duplicated interval. While causality cannot be definitively established, these observations contribute to the emerging understanding of the functional consequences of Xp22.33 duplications and suggest that increased copy number within this region may be associated with a clinically significant neurodevelopmental phenotype.

Indexed as

Chromosome DuplicationChromosomes, Human, XNeurodevelopmental DisordersDNA Copy Number VariationsGene DuplicationHumansMalePhenotypePseudoautosomal RegionsASMTautism spectrum disorderCSF2RADHRSXglobal developmental delayneurodevelopmental disordersPAR1SHOXtall statureXp22.33 duplication

Identifiers

PMID41751622

DOI10.3390/genes17020238

PMCPMC12941262

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