000151073 001__ 151073
000151073 005__ 20251017144639.0
000151073 0247_ $$2doi$$a10.1111/cge.14701
000151073 0248_ $$2sideral$$a142950
000151073 037__ $$aART-2025-142950
000151073 041__ $$aeng
000151073 100__ $$aTrujillano, Laura
000151073 245__ $$aComprehensive clinical and genetic characterization of a Spanish cohort of 22 patients with Bainbridge–Ropers Syndrome
000151073 260__ $$c2025
000151073 5060_ $$aAccess copy available to the general public$$fUnrestricted
000151073 5203_ $$aBainbridge–Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype–phenotype correlation. We identified 19 ASXL3 variants, nine of which are novel. We documented recurrence in nontwin siblings due to parental mosaicism. The predominant prenatal finding was intrauterine growth restriction (35%) followed, after birth, by feeding difficulties (90.5%), hypotonia (85.7%), and gastroesophageal reflux disease (82.4%). Later in life, intellectual disability, language impairment, autism spectrum disorder (75%), and joint laxity (73.7%) were noted. Individuals with variants in the 3′ mutational cluster region (MCR) of exon 12 exhibited more perinatal feeding problems, and those with variants in the 5′ MCR of exon 11 displayed lower percentiles in height and occipitofrontal circumference, as well as higher frequency of arched eyebrows. This study is the first characterization of a Spanish BRPS cohort, with more than 50 clinical features analyzed, representing the most detailed phenotypic analysis to date.
000151073 540__ $$9info:eu-repo/semantics/embargoedAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000151073 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000151073 700__ $$aValenzuela, Irene
000151073 700__ $$aCosta-Roger, Mar
000151073 700__ $$aCuscó, Ivon
000151073 700__ $$aFernandez-Alvarez, Paula
000151073 700__ $$aCueto-González, Anna
000151073 700__ $$aLasa-Aranzasti, Amaia
000151073 700__ $$aMasotto, Bárbara
000151073 700__ $$aAbulí, Anna
000151073 700__ $$aCodina-Solà, Marta
000151073 700__ $$adel Campo, Miguel
000151073 700__ $$aRuiz Moreno, Juan Antonio
000151073 700__ $$aPardo Domínguez, Cristina
000151073 700__ $$aPalma Milla, Carmen
000151073 700__ $$aPérez de la Fuente, Rubén
000151073 700__ $$aQuesada-Espinosa, Juan Francisco
000151073 700__ $$aNúñez-Enamorado, Noemí
000151073 700__ $$aGener, Blanca
000151073 700__ $$aBallesta-Martínez, María Juliana
000151073 700__ $$aBrea-Fernández, Alejandro J.
000151073 700__ $$aFernández-Prieto, Montse
000151073 700__ $$aTrujillo-Quintero, Juan Pablo
000151073 700__ $$aRuiz, Anna
000151073 700__ $$aSantos-Simarro, Fernando
000151073 700__ $$aRosello, Mónica
000151073 700__ $$aOrellana, Carmen
000151073 700__ $$aMartinez, Francisco
000151073 700__ $$aMartinez-Monseny, Antonio F.
000151073 700__ $$aCasas-Alba, Dídac
000151073 700__ $$aSerrano, Mercedes
000151073 700__ $$aPalomares-Bralo, María
000151073 700__ $$aRikeros-Orozco, Emi
000151073 700__ $$aGómez-Cano, María Ángeles
000151073 700__ $$aTirado-Requero, Pilar
000151073 700__ $$aPié Juste, Juan
000151073 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano J.$$uUniversidad de Zaragoza
000151073 700__ $$aGarcía-Arumí, Elena
000151073 700__ $$aTizzano, Eduardo F.
000151073 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000151073 773__ $$g(2025), [17 pp.]$$pClin. genet.$$tClinical genetics$$x0009-9163
000151073 8564_ $$s361442$$uhttps://zaguan.unizar.es/record/151073/files/texto_completo.pdf$$yPostprint$$zinfo:eu-repo/date/embargoEnd/2026-01-20
000151073 8564_ $$s2316149$$uhttps://zaguan.unizar.es/record/151073/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint$$zinfo:eu-repo/date/embargoEnd/2026-01-20
000151073 909CO $$ooai:zaguan.unizar.es:151073$$particulos$$pdriver
000151073 951__ $$a2025-10-17-14:31:07
000151073 980__ $$aARTICLE