Title |
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
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Published in |
European Journal of Medical Genetics, July 2018
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DOI | 10.1016/j.ejmg.2018.07.015 |
Pubmed ID | |
Authors |
Maryam Al Shehhi, Eva B Forman, Jacqueline E Fitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R Betts, Linda Mc Ardle, Kathleen M Gorman, Mary D King, Andrew Green, Louise Gallagher, Sally 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 2 | 29% |
Slovenia | 1 | 14% |
Canada | 1 | 14% |
Unknown | 3 | 43% |
Demographic breakdown
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Members of the public | 6 | 86% |
Scientists | 1 | 14% |
Mendeley readers
Geographical breakdown
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Unknown | 117 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 21 | 18% |
Student > Master | 15 | 13% |
Researcher | 13 | 11% |
Student > Ph. D. Student | 11 | 9% |
Student > Doctoral Student | 9 | 8% |
Other | 15 | 13% |
Unknown | 33 | 28% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 16 | 14% |
Neuroscience | 13 | 11% |
Psychology | 10 | 9% |
Social Sciences | 6 | 5% |
Other | 12 | 10% |
Unknown | 42 | 36% |