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Title: Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Austin Authors: Ewans, Lisa J;Field, Michael;Zhu, Ying;Turner, Gillian;Leffler, Melanie;Dinger, Marcel E;Cowley, Mark J;Buckley, Michael F;Scheffer, Ingrid E ;Jackson, Matilda R;Roscioli, Tony;Shoubridge, Cheryl
Affiliation: Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia
Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia
Sydney Children's Hospital, University of New South Wales, Sydney, New South Wales, Australia
St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
The Genetics of Learning Disability Service, Waratah, New South Wales, Australia
SEALS Molecular and Cytogenetics Laboratories, Randwick Hospitals Campus, Sydney, New South Wales, Australia
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia
Issue Date: Jun-2017
Date: 2017-03-15
Publication information: European journal of human genetics : EJHG 2017; 25(6): 763-767
Abstract: We 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.
DOI: 10.1038/ejhg.2017.29
ORCID: 0000-0002-2311-2174
Journal: European journal of human genetics : EJHG
PubMed URL: 28295038
Type: Journal Article
Appears in Collections:Journal articles

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