X-linked Intellectual Disability: Phenotypic Expression in Carrier Females.

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dc.contributor.authorZiats, C.A.
dc.contributor.authorSchwartz, C.E.
dc.contributor.authorGecz, J.
dc.contributor.authorShaw, M.
dc.contributor.authorField, M.J.
dc.contributor.authorStevenson, R.E.
dc.contributor.authorNeri, G.
dc.date.issued2020
dc.description.abstractTo better understand the landscape of female phenotypic expression in X-linked intellectual disability (XLID), we surveyed the literature for female carriers of XLID gene alterations (n = 1098) and combined this with experience evaluating XLID kindreds at the Greenwood Genetic Center (n = 341) and at the University of Adelaide (n = 157). One-hundred forty-four XLID genes were grouped into nine categories based on the level of female phenotypic expression, ranging from no expression to female only expression. For each gene, the clinical presentation, gene expression in blood, X-inactivation (XI) pattern, biological pathway involved, and whether the gene escapes XI were noted. Among the XLID conditions, 88 (61.1%) exhibited female cognitive phenotypic expression only, while 56 (38.9%) had no female phenotypic expression (n = 45), phenotype expression with normal cognition in females (n = 8), or unknown status for female phenotypic expression (n = 3). In twenty-four (16.6%) XLID genes, XI was consistently skewed in female carriers, in 54 (37.5%) XI showed variable skewing, and in 33 (22.9%) XI was consistently random. The XI pattern was unknown in 33 (22.9%) XLID conditions. Therefore, there is evidence of a female carrier phenotype in the majority of XLID conditions although how exactly XI patterns influence the female phenotype in XLID conditions remains unclear.
dc.description.statementofresponsibilityCatherine A. Ziats, Charles E. Schwartz, Jozef Gecz, Marie Shaw, Michael J. Field, Roger E. Stevenson, Giovanni Neri
dc.identifier.citationClinical Genetics, 2020; 97(3):418-425
dc.identifier.doi10.1111/cge.13667
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]
dc.identifier.urihttps://hdl.handle.net/2440/145833
dc.language.isoen
dc.publisherWiley
dc.rights© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
dc.source.urihttps://doi.org/10.1111/cge.13667
dc.subjectfemale carriers; intellectual disability; X-inactivation; X-linkage
dc.subject.meshHumans
dc.subject.meshHeterozygote
dc.subject.meshPhenotype
dc.subject.meshFemale
dc.subject.meshX Chromosome Inactivation
dc.subject.meshGenes, X-Linked
dc.subject.meshIntellectual Disability
dc.titleX-linked Intellectual Disability: Phenotypic Expression in Carrier Females.
dc.typeJournal article
pubs.publication-statusPublished

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