Publicação
Loss of function of PCDH11X gene in the pathogenesis of neurodevelopmental disorders
| dc.contributor.author | Pedro, Sónia | |
| dc.contributor.author | Marques, Bárbara | |
| dc.contributor.author | Tarelho, Ana Rita | |
| dc.contributor.author | Vicente, M. Lurdes | |
| dc.contributor.author | Correia, Hildeberto | |
| dc.date.accessioned | 2026-03-04T13:09:38Z | |
| dc.date.available | 2026-03-04T13:09:38Z | |
| dc.date.issued | 2025-11 | |
| dc.description | Abstract disponível em: Sociedade Portuguesa de Genética Humana. Livro de Resumos. 29. Annual Meeting; 2025 Nov 20-22; Coimbra, Portugal. p. 140. | |
| dc.description.abstract | Introduction: The PCDH11X gene, predominantly expressed in the brain, plays an important role in cell–cell communication, dendritic synaptic plasticity, cerebral lateralization, and verbal ability. Although it is not currently classified as a morbid gene, loss-of-function (LoF) variants in PCDH11X have been reported in the literature as having a moderate association whit autism spectrum disorder (ASD). These variants have been described exclusively in males with ASD, and a recent X-chromosome-wide association study highlighted significant associations between intronic and intergenic variants in this locus and ASD in males. We report a 6-year-old male patient presenting a complex neurodevelopmental phenotype, including learning difficulties, mild motor delay, speech sound disorder, selective mutism, and global hypotonia, as well as facial dysmorphisms, such on prominent large ears, midface hypoplasia, and a high forehead. Methodology: DNA was extracted from blood sample and chromosomal microarray analysis (CMA), was performed using Thermofisher CytoScan HD. Results: CMA profile identified a 2.80 Mb interstitial deletion at Xq21.31q21.32 (arr[GRCh37] Xq21.31q21.32(90,594,030_93,397,746)x0). Discussion: The interstitial deletion identified in this patient encompasses three OMIM listed genes, PABPC5, PCDH11X, and NAP1L3, none of which are currently classified as morbid and being associated to disease. However, the patient’s phenotype, characterized by neurodevelopmental disorders, aligns with previous reports linking PCDH11X alterations to neurodevelopmental impairments. Although the current level of evidence is considered moderate, this case suggesting a potential role for PCDH11X loss of function in the pathogenesis of neurodevelopmental disorders. In particular, the overlap between the clinical features observed and the known functions of PCDH11X, especially those related to language and communication, reinforces the hypothesis that this gene, despite not being classified as morbid to date, may contribute causally to such phenotypes when disrupted. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11119 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.relation.hasversion | https://spgh.net/wp-content/uploads/2014/04/liv_resumos_spgh25-1.pdf | |
| dc.rights.uri | N/A | |
| dc.subject | Neurodevelopmental Conditions | |
| dc.subject | CMA | |
| dc.subject | Chromosomal Microarray | |
| dc.subject | Doenças Genéticas | |
| dc.title | Loss of function of PCDH11X gene in the pathogenesis of neurodevelopmental disorders | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-11 | |
| oaire.citation.conferencePlace | Coimbra, Portugal | |
| oaire.citation.title | 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), 20-22 novembro 2025 | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce |