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.
CITATION STYLE
Al Shehhi, M., Forman, E. B., Fitzgerald, J. E., McInerney, V., Krawczyk, J., Shen, S., … Lynch, S. A. (2019). NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. European Journal of Medical Genetics, 62(3), 204–209. https://doi.org/10.1016/j.ejmg.2018.07.015
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