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• W2883380713 abstract "The spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders and congenital malformations. Reduced penetrance and variable expressivity of deletions in this gene remain a challenge for genetic counselling. We clinically reviewed 67 NRXN1 deletions from 34 families to document the phenotype and determine odds ratio. Thirty-four probands (5 adults, 29 children (<16 years)) were initially identified from a cohort clinically referred for arrayCGH. A further 33 NRXN1 deletions (16 with established phenotype) from the families were identified following cascade screening. Speech and language delay was a consistent clinical presentation. Pedigree analysis of the inherited group revealed numerous untested relatives with a history of mental health and developmental issues, most notably in the NRXN1β isoform patients. Our study highlights the complex nature of the NRXN1 phenotype in this population." @default.
• W2883380713 created "2018-08-03" @default.
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• W2883380713 date "2019-03-01" @default.
• W2883380713 modified "2023-10-02" @default.
• W2883380713 title "NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families" @default.
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• W2883380713 doi "https://doi.org/10.1016/j.ejmg.2018.07.015" @default.
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