ArticleEuropean journal of human genetics : EJHG2017
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Preliminary Study on Clinical Characteristics and Pathogenesis ofPharmacogenomics and personalized medicine · 2024Article
- Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.Molecular genetics & genomic medicine · 2022Article
- Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.Neurogenetics · 2020Article
- Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.Cold Spring Harbor molecular case studies · 2020Article
- Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.Journal of genetics · 2020Article
- Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.Human mutation · 2019Article
- Heterozygous loss of function ofLife science alliance · 2019Article
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
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Authors and funding
12 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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