Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

Latorre-Pellicer, Ana (Universidad de Zaragoza) ; Ascaso, Ángela ; Lucia-Campos, Cristina ; Gil-Salvador, Marta (Universidad de Zaragoza) ; Arnedo, María (Universidad de Zaragoza) ; Antoñanzas, Rebeca (Universidad de Zaragoza) ; Ayerza-Casas, Ariadna ; Marcos-Alcalde, Iñigo ; Gómez-Puertas, Paulino ; Ramos, Feliciano J. (Universidad de Zaragoza) ; Pié, Juan (Universidad de Zaragoza) ; Puisac, Beatriz (Universidad de Zaragoza)

Resumen: The diagnosis success rates for developmental disorders have greatly improved in the last years mainly due to the widespread use of DNA next- generation sequencing. Nevertheless, several studies have stressed the importance of a critical reconsideration of genetic results and a further implementation of protocols for variant- level reevaluation and case- level reanalysis (Deignan et al., 2019). This is es-pecially relevant in the context of syndromes, such as the chromatinopathies Cornelia de Lange syndrome (CdLS, OMIM#122470) and KBG syndrome (KBGS, OMIM #148050), with overlapping phenotypes that may evolve over time (Parenti et al., 2021). Here, we present a chal-lenging familiar case reanalyzed in which phenotypic features of both KBGS and CdLS are observed, and where genetic variants in ANKRD11 and NIPBL were identified (...).

Idioma: Inglés

DOI: 10.1002/mgg3.1826

Año: 2021

Publicado en: Molecular genetics & genomic medicine 9, 11 (2021), e1826 [3 pp.]
ISSN: 2324-9269

Factor impacto JCR: 2.473 (2021)

Categ. JCR: GENETICS & HEREDITY rank: 122 / 175 = 0.697 (2021) - Q3 - T3

Factor impacto CITESCORE: 3.3 - Medicine (Q2) - Biochemistry, Genetics and Molecular Biology (Q3)

Factor impacto SCIMAGO: 0.618 - Genetics (clinical) (Q3) - Genetics (Q3)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B32-17R
Financiación: info:eu-repo/grantAgreement/ES/DGA/B32-20R
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI19-01860

Tipo y forma: (Versión definitiva)

Área (Departamento): Área Fisiología (Dpto. Farmac.Fisiol.y Med.L.F.)
Área (Departamento): Proy. investigación DUA (Dpto. Farmac.Fisiol.y Med.L.F.)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)