Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene
| dc.rights.license | open | en_US |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Université de Bordeaux [UB] | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MARGOT, Henri | |
| hal.structure.identifier | Centre hospitalier Charles Perrens [Bordeaux] | |
| dc.contributor.author | PIZANO, Adrien | |
| hal.structure.identifier | Centre hospitalier Charles Perrens [Bordeaux] | |
| hal.structure.identifier | Centre Ressources Autisme et Troubles du Développement [CRA] | |
| dc.contributor.author | AMESTOY, Anouck | |
| hal.structure.identifier | Hôpital Pellegrin | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Université de Bordeaux [UB] | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | LACOMBE, Didier | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | BERGES, Camille | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | BENETEAU, Claire | |
| hal.structure.identifier | University of Calgary | |
| dc.contributor.author | INNES, A. Micheil | |
| dc.date.accessioned | 2024-08-29T12:57:56Z | |
| dc.date.available | 2024-08-29T12:57:56Z | |
| dc.date.issued | 2024-04-09 | |
| dc.identifier.issn | 1552-4876 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/201352 | |
| dc.description.abstractEn | Marfanoid habitus and intellectual disability (MHID) co-occur in multiple neurodevelopmental disorders (NDD). Among those, Lujan-Fryns, an X-linked genetic disorder associated with variants in MED12 was the first such syndrome identified. Accurate molecular diagnosis for these MHID syndromes remains a challenge due to significant clinical and genetic heterogeneity. We present a case report of a 20-year-old male patient with MHID and severe social anxiety. A comprehensive clinical evaluation, including morphotype assessment, cognitive, and psychometric and genetic testing, was conducted to provide a detailed understanding of the patient's complex clinical presentation. Psychometric assessments revealed severe social anxiety and various cognitive and emotional challenges. Despite some autism-like symptoms, the patient's clinical presentation was more aligned with mild intellectual disability. Exome sequencing was inconclusive but identified a heterozygous de novo missense variant in the PCDHGA5 gene. This gene is not known in human pathology yet, but we also report a second patient with a syndromic neurodevelopmental disorder and a rare de novo variant which leads us to propose this as a candidate gene. Our findings emphasize the importance of multidisciplinary approach in the diagnosis and management of MHID. This case report underscores the need for objective clinical evaluations and standardized tools to better understand the complex clinical profiles of patients with NDDs. The identification of novel PCDHGA5 gene variants adds this gene's candidacy to the genetic landscape of MHID-NDD, warranting further investigation to determine its potential contribution. | |
| dc.language.iso | EN | en_US |
| dc.rights | Attribution 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
| dc.subject.en | Autism spectrum disorder | |
| dc.subject.en | Marfanoid habitus | |
| dc.subject.en | Neurodevelopmental disorder | |
| dc.subject.en | PCDHGA5 | |
| dc.title.en | Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene | |
| dc.title.alternative | Am J Med Genet C Semin Med Genet | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1002/ajmg.c.32087 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 38591859 | en_US |
| bordeaux.journal | American Journal of Medical Genetics Part C Seminar in Medical Genetics | en_US |
| bordeaux.page | e32087 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-04681266 | |
| hal.version | 1 | |
| hal.date.transferred | 2024-08-29T12:57:58Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | CC BY | en_US |
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