Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/19062
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dc.contributor.authorEwans, Lisa J-
dc.contributor.authorField, Michael-
dc.contributor.authorZhu, Ying-
dc.contributor.authorTurner, Gillian-
dc.contributor.authorLeffler, Melanie-
dc.contributor.authorDinger, Marcel E-
dc.contributor.authorCowley, Mark J-
dc.contributor.authorBuckley, Michael F-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorJackson, Matilda R-
dc.contributor.authorRoscioli, Tony-
dc.contributor.authorShoubridge, Cheryl-
dc.date2017-03-15-
dc.date.accessioned2018-09-13T00:14:46Z-
dc.date.available2018-09-13T00:14:46Z-
dc.date.issued2017-06-
dc.identifier.citationEuropean journal of human genetics : EJHG 2017; 25(6): 763-767-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/19062-
dc.description.abstractWe report a family with four girls with moderate to severe intellectual disability and epilepsy. Two girls showed regression in adolescence and died of presumed sudden unexpected death in epilepsy at 16 and 22 years. Whole exome sequencing identified a truncating pathogenic variant in IQSEC2 at NM_001111125.2: c.2679_2680insA, p.(D894fs*10), a recently identified cause of epileptic encephalopathy in females (MIM 300522). The IQSEC2 variant was identified in both surviving affected sisters but in neither parent. We describe the phenotypic spectrum associated with IQSEC2 variants, highlighting how IQSEC2 is adding to a growing list of X-linked genes that have a female-specific phenotype typically associated with de novo mutations. This report illustrates the need for careful review of all whole exome data, incorporating all possible modes of inheritance including that suggested by the family history.-
dc.language.isoeng-
dc.titleGonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.-
dc.typeJournal Article-
dc.identifier.journaltitleEuropean journal of human genetics : EJHG-
dc.identifier.affiliationRobinson Research Institute, University of Adelaide, Adelaide, South Australia, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationAdelaide Medical School, University of Adelaide, Adelaide, South Australia, Australiaen
dc.identifier.affiliationSydney Children's Hospital, University of New South Wales, Sydney, New South Wales, Australiaen
dc.identifier.affiliationSt Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australiaen
dc.identifier.affiliationKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australiaen
dc.identifier.affiliationThe Genetics of Learning Disability Service, Waratah, New South Wales, Australiaen
dc.identifier.affiliationSEALS Molecular and Cytogenetics Laboratories, Randwick Hospitals Campus, Sydney, New South Wales, Australiaen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australiaen
dc.identifier.doi10.1038/ejhg.2017.29-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.pubmedid28295038-
dc.type.austinJournal Article-
local.name.researcherScheffer, Ingrid E
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextnone-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
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