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• W2921564456 startingPage "125" @default.
• W2921564456 abstract "Neurexins are presynaptic cell adhesion molecules critically involved in synaptogenesis and vesicular neurotransmitter release. They are encoded by three genes (NRXN1-3), each yielding a longer alpha (α) and a shorter beta (β) transcript. Deletions spanning the promoter and the initial exons of the NRXN1 gene, located in chromosome 2p16.3, are associated with a variety of neurodevelopmental, psychiatric, neurological and neuropsychological phenotypes. We have performed a systematic review to define (a) the clinical phenotypes most associated with mono-allelic exonic NRXN1 deletions, and (b) the phenotypic features of NRXN1 bi-allelic deficiency due to compound heterozygous deletions/mutations. Clinically, three major conclusions can be drawn: (a) incomplete penetrance and pleiotropy do not allow reliable predictions of clinical outcome following prenatal detection of mono-allelic exonic NRXN1 deletions. Newborn carriers should undergo periodic neuro-behavioral observations for the timely detection of warning signs and the prescription of early behavioral intervention; (b) the presence of additional independent genetic risk factors should always be sought, as they may influence prognosis; (c) children with exonic NRXN1 deletions displaying early-onset, severe psychomotor delay in the context of a Pitt-Hopkins-like syndrome 2 phenotype, should undergo DNA sequencing of the spared NRXN1 allele in search for mutations or very small insertions/deletions." @default.
• W2921564456 created "2019-03-22" @default.
• W2921564456 creator A5018305639 @default.
• W2921564456 creator A5022548066 @default.
• W2921564456 creator A5033132922 @default.
• W2921564456 creator A5039137482 @default.
• W2921564456 creator A5043817668 @default.
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• W2921564456 creator A5064905841 @default.
• W2921564456 creator A5075667321 @default.
• W2921564456 creator A5086216827 @default.
• W2921564456 date "2019-05-07" @default.
• W2921564456 modified "2023-09-27" @default.
• W2921564456 title "Phenotypic spectrum of <i>NRXN1</i> mono‐ and bi‐allelic deficiency: A systematic review" @default.
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