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Title

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

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Published in Journal of Human Genetics. 2018, vol. 63, no. 7, p. 847-850
Abstract Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups. Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named KIAA2022) on the X chromosome are responsible for ID, autistic behavior, epilepsy, or dysmorphic features in males. Most affected females described had a milder phenotype or were asymptomatic obligate carriers. We report here for the first time mother-to-son transmission of a novel NEXMIF truncating variant without X-inactivation skewing in the blood. Truncating gene variant leads to symptomatic mother to severely affected son transmission. Our findings emphasize that NEXMIF sequencing should be strongly considered in patients with unexplained autism spectrum disorder, ID, and epilepsy, irrespective of gender. Such testing could increase our knowledge of the pathogenicity of NEXMIF variants and improve genetic counseling.
Keywords AdultAutism Spectrum Disorder/diagnosis/genetics/physiopathologyBase SequenceChildEpilepsy/diagnosis/genetics/physiopathologyFemaleGene ExpressionHemizygoteHeterozygoteHumansIntellectual Disability/diagnosis/genetics/physiopathologyMaleMaternal InheritanceNerve Tissue Proteins/geneticsPedigreeSequence DeletionSeverity of Illness IndexX Chromosome Inactivation
Identifiers
PMID: 29717186
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Article (Accepted version) (270 Kb) - public document Free access
Structures
Research groups Groupe Giacobino Ariane (génétique) (923)
Traitement et neurobiologie de la dépression (916)
Project
Swiss National Science Foundation: NCCR Synapsy
Citation
(ISO format)
LAMBERT, Nelle et al. Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. In: Journal of Human Genetics, 2018, vol. 63, n° 7, p. 847-850. doi: 10.1038/s10038-018-0459-2 https://archive-ouverte.unige.ch/unige:123733

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Deposited on : 2019-10-01

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