Peer-Reviewed Journal Details
Mandatory Fields
Al Shehhi, M;Forman, EB;Fitzgerald, JE;McInerney, V;Krawczyk, J;Shen, SB;Betts, DR;Mc Ardle, L;Gorman, KM;King, MD;Green, A;Gallagher, L;Lynch, SA
2019
March
European Journal Of Medical Genetics
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
Published
Optional Fields
SPECTRUM CARTOGRAPHY NEUREXINS GENES
62
204
209
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 NRXN1 beta isoform patients. Our study highlights the complex nature of the NRXN1 phenotype in this population.
1769-7212
10.1016/j.ejmg.2018.07.015
Grant Details
Publication Themes