Author | dc.contributor.author | Faúndes Gómez, Víctor Manuel | |
Author | dc.contributor.author | Goh, Stephanie | |
Author | dc.contributor.author | Akilapa, Rhoda | |
Author | dc.contributor.author | Bezuidenhout, Heidre | |
Author | dc.contributor.author | Bjornsson, Hans T. | |
Author | dc.contributor.author | Bradley, Lisa | |
Author | dc.contributor.author | Brady, Angela F. | |
Author | dc.contributor.author | Brischoux Boucher, Elise | |
Author | dc.contributor.author | Brunner, Han | |
Author | dc.contributor.author | Bulk, Saskia | |
Author | dc.contributor.author | Canham, Natalie | |
Author | dc.contributor.author | Cody, Declan | |
Author | dc.contributor.author | Dentici, María Lisa | |
Author | dc.contributor.author | Digilio, María Cristina | |
Author | dc.contributor.author | Elmslie, Frances | |
Author | dc.contributor.author | Fry, Andrew E. | |
Author | dc.contributor.author | Gill, Harinder | |
Author | dc.contributor.author | Hurst, Jane | |
Author | dc.contributor.author | Johnson, Diana | |
Author | dc.contributor.author | Julia, Sophie | |
Author | dc.contributor.author | Lachlan, Katherine | |
Author | dc.contributor.author | Lebel, Robert Roger | |
Author | dc.contributor.author | Byler, Melissa | |
Author | dc.contributor.author | Gershon, Eric | |
Author | dc.contributor.author | Lemire, Edmond | |
Author | dc.contributor.author | Gnazzo, María | |
Author | dc.contributor.author | Lepri, Francesca Romana | |
Author | dc.contributor.author | Marchese, Antonia | |
Author | dc.contributor.author | McEntagart, Meriel | |
Author | dc.contributor.author | McGaughran, Julie | |
Author | dc.contributor.author | Mizuno, Seiji | |
Author | dc.contributor.author | Okamoto, Nobuhiko | |
Author | dc.contributor.author | Rieubland, Claudine | |
Author | dc.contributor.author | Rodgers, Jonathan | |
Author | dc.contributor.author | Sasaki, Erina | |
Author | dc.contributor.author | Scalais, Emmanuel | |
Author | dc.contributor.author | Scurr, Ingrid | |
Author | dc.contributor.author | Suri, Mohnish | |
Author | dc.contributor.author | van der Burgt, Ineke | |
Author | dc.contributor.author | Matsumoto, Naomichi | |
Author | dc.contributor.author | Miyake, Noriko | |
Author | dc.contributor.author | Benoit, Valérie | |
Author | dc.contributor.author | Lederer, Damien | |
Author | dc.contributor.author | Banka, Siddharth | |
Admission date | dc.date.accessioned | 2022-03-21T19:27:33Z | |
Available date | dc.date.available | 2022-03-21T19:27:33Z | |
Publication date | dc.date.issued | 2021 | |
Cita de ítem | dc.identifier.citation | Genetics in Medicine (2021) 23:1202–1210 | es_ES |
Identifier | dc.identifier.other | 10.1038/s41436-021-01119-8 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/184292 | |
Abstract | dc.description.abstract | PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.
METHODS: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and
analyzed.
RESULTS: Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were
identified. Missense variants clustered in the TRP 2, 3, 7 and Jmj-C domains. Truncating variants were significantly more likely to be
de novo. Thirteen individuals had maternally inherited variants and one had a paternally inherited variant. Neonatal feeding
difficulties, hypoglycemia, postnatal growth retardation, poor weight gain, motor delay, intellectual disability (ID), microcephaly,
congenital heart anomalies, palate defects, renal malformations, strabismus, hearing loss, recurrent infections, hyperinsulinism,
seizures, joint hypermobility, and gastroesophageal reflux were frequent clinical findings. Facial features of over a third of patients
were not typical for KS. Males were significantly more likely to be born prematurely, have shorter stature, and severe developmental
delay/ID.
CONCLUSION: We expand the KDM6A variant spectrum and delineate the KS2 phenotype. We demonstrate that the variability of
the KS2 phenotypic depends on sex and the variant type. We also highlight the overlaps and differences between the phenotypes
of KS2 and KS1. | es_ES |
Patrocinador | dc.description.sponsorship | CONICYT, Chile's National Commission for Scientific and Technological Research 72160007
Kabuki Research Fund at Manchester University NHS Foundation Trust 629396
Health Innovation Challenge Fund HICF-1009-003
Wellcome Trust
European Commission
National Institute for Health Research through the Comprehensive Clinical Research Network, UK
Louma G. Foundation
AKABE (Belgian Kabuki association)
AMED JP20ek0109280
JP20dm0107090
JP20ek0109301
JP20ek0109348
JP20kk0205012
Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT)
Japan Society for the Promotion of Science
Grants-in-Aid for Scientific Research (KAKENHI) JP17H01539
Aparece en contenido como:JSPS KAKENHI
JP19H06321
Ministry of Health, Italy RC2020 | es_ES |
Lenguage | dc.language.iso | en | es_ES |
Publisher | dc.publisher | Nature | es_ES |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 United States | * |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/us/ | * |
Source | dc.source | Genetics in Medicine | es_ES |
Título | dc.title | Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 | es_ES |
Document type | dc.type | Artículo de revista | es_ES |
dc.description.version | dc.description.version | Versión publicada - versión final del editor | es_ES |
dcterms.accessRights | dcterms.accessRights | Acceso abierto | es_ES |
Cataloguer | uchile.catalogador | cfr | es_ES |
Indexation | uchile.index | Artículo de publícación WoS | es_ES |
Indexation | uchile.index | Artículo de publicación SCOPUS | es_ES |