NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

European Journal of Medical Genetics
Maryam Al ShehhiSally A Lynch

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.

Citations

Mar 16, 2019·Clinical Genetics·Paola CastronovoAntonio M Persico
Mar 11, 2020·Journal of Medical Genetics·Matthew JensenSanthosh Girirajan
Jul 12, 2020·American Journal of Speech-language Pathology·Ruby BartolomeEmily Zimmerman
Aug 2, 2020·Journal of Neurochemistry·Abinayah JohnKate Baker
Mar 7, 2020·The EMBO Journal·Fujun LuoThomas C Südhof
Sep 16, 2020·Translational Psychiatry·Martin BeckerKristiina Tammimies
Oct 22, 2020·Nature Communications·Ke XuUNKNOWN VA Million Veteran Program
Jan 19, 2021·Current Opinion in Genetics & Development·Samuel Jra ChawnerMichael J Owen
Dec 29, 2020·American Journal of Medical Genetics. Part a·Fady Hannah-ShmouniMark A Tarnopolsky
Mar 24, 2020·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S SternH Daum
Sep 17, 2021·BMC Neuroscience·Sahar AvazzadehLouise Gallagher

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