Show simple item record

dc.contributor.authorFaundes, Víctor
dc.contributor.authorGoh, Stephanie
dc.contributor.authorAkilapa, Rhoda
dc.contributor.authorBezuidenhout, Heidre
dc.contributor.authorBjornsson, Hans T.
dc.contributor.authorBradley, Lisa
dc.contributor.authorBrady, Angela F.
dc.contributor.authorBrischoux-Boucher, Elise
dc.contributor.authorBrunner, Han
dc.contributor.authorBulk, Saskia
dc.contributor.authorCanham, Natalie
dc.contributor.authorCody, Declan
dc.contributor.authorDentici, Maria Lisa
dc.contributor.authorDigilio, Maria Cristina
dc.contributor.authorElmslie, Frances
dc.contributor.authorFry, Andrew E.
dc.contributor.authorGill, Harinder
dc.contributor.authorHurst, Jane
dc.contributor.authorJohnson, Diana
dc.contributor.authorJulia, Sophie
dc.contributor.authorLachlan, Katherine
dc.contributor.authorLebel, Robert Roger
dc.contributor.authorByler, Melissa
dc.contributor.authorGershon, Eric
dc.contributor.authorLemire, Edmond
dc.contributor.authorGnazzo, Maria
dc.contributor.authorLepri, Francesca Romana
dc.contributor.authorMarchese, Antonia
dc.contributor.authorMcEntagart, Meriel
dc.contributor.authorMcGaughran, Julie
dc.contributor.authorMizuno, Seiji
dc.contributor.authorOkamoto, Nobuhiko
dc.contributor.authorRieubland, Claudine
dc.contributor.authorRodgers, Jonathan
dc.contributor.authorSasaki, Erina
dc.contributor.authorScalais, Emmanuel
dc.contributor.authorScurr, Ingrid
dc.contributor.authorSuri, Mohnish
dc.contributor.authorvan der Burgt, Ineke
dc.contributor.authorMatsumoto, Naomichi
dc.contributor.authorMiyake, Noriko
dc.contributor.authorBenoit, Valérie
dc.contributor.authorLederer, Damien
dc.contributor.authorBanka, Siddharth; orcid: 0000-0002-8527-2210; email: siddharth.banka@manchester.ac.uk
dc.date.accessioned2021-07-05T15:11:42Z
dc.date.available2021-07-05T15:11:42Z
dc.date.issued2021-03-05
dc.date.submitted2020-10-09
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625144/41436_2021_Article_1119_nlm.xml?sequence=2
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625144/additional-files.zip?sequence=3
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625144/41436_2021_Article_1119.pdf?sequence=4
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625144/41436_2021_1119_MOESM1_ESM.pdf?sequence=5
dc.identifier.citationGenetics in Medicine, volume 23, issue 7, page 1202-1210
dc.identifier.urihttp://hdl.handle.net/10034/625144
dc.descriptionFrom Springer Nature via Jisc Publications Router
dc.descriptionHistory: received 2020-10-09, rev-recd 2021-02-03, accepted 2021-02-03, registration 2021-02-03, pub-electronic 2021-03-05, online 2021-03-05, pub-print 2021-07
dc.descriptionPublication status: Published
dc.descriptionFunder: Kabuki Research Fund; doi: https://doi.org/10.13039/; Grant(s): 629396
dc.description.abstractAbstract: 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.
dc.languageen
dc.publisherNature Publishing Group US
dc.rightsLicence for this article: http://creativecommons.org/licenses/by/4.0/
dc.sourcepissn: 1098-3600
dc.sourceeissn: 1530-0366
dc.subjectArticle
dc.subjectarticle
dc.titleClinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
dc.typearticle
dc.date.updated2021-07-05T15:11:42Z
dc.date.accepted2021-02-03


Files in this item

Thumbnail
Name:
41436_2021_Article_1119_nlm.xml
Size:
112.0Kb
Format:
XML
Thumbnail
Name:
additional-files.zip
Size:
68.01Kb
Format:
Unknown
Thumbnail
Name:
41436_2021_Article_1119.pdf
Size:
1.222Mb
Format:
PDF
Thumbnail
Name:
41436_2021_1119_MOESM1_ESM.pdf
Size:
113.0Kb
Format:
PDF

This item appears in the following Collection(s)

Show simple item record