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61 results

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Page 1
Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome.
Salo-Mullen EE, Lynn PB, Wang L, Walsh M, Gopalan A, Shia J, Tran C, Man FY, McBride S, Schattner M, Zhang L, Weiser MR, Stadler ZK. Salo-Mullen EE, et al. Fam Cancer. 2018 Jan;17(1):71-77. doi: 10.1007/s10689-017-0006-x. Fam Cancer. 2018. PMID: 28555354 Free PMC article. Review.
Although commonly associated with clinical features such as intellectual disability and congenital anomalies, contiguous gene deletions may also result in cancer predisposition syndromes. We report on a 52-year-old male with Lynch syndrome caused by deletion …
Although commonly associated with clinical features such as intellectual disability and congenital anomalies, contiguous gene dele …
Altered medial prefrontal cortex and dorsal raphe activity predict genotype and correlate with abnormal learning behavior in a mouse model of autism-associated 2p16.3 deletion.
Hughes RB, Whittingham-Dowd J, Clapcote SJ, Broughton SJ, Dawson N. Hughes RB, et al. Autism Res. 2022 Apr;15(4):614-627. doi: 10.1002/aur.2685. Epub 2022 Feb 10. Autism Res. 2022. PMID: 35142069 Free PMC article.
2p16.3 deletion, involving NEUREXIN1 (NRXN1) heterozygous deletion, substantially increases the risk of developing autism and other neurodevelopmental disorders. ...The data suggest that Nrxn1alpha(+/-) mice provide a translational model for the cognit …
2p16.3 deletion, involving NEUREXIN1 (NRXN1) heterozygous deletion, substantially increases the risk of developi …
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA. Al Shehhi M, et al. Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031152
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 malformation …
The spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum diso …
Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma.
van Engelen N, van Dijk F, Waanders E, Buijs A, Vermeulen MA, Loeffen JLC, Kuiper RP, Jongmans MCJ. van Engelen N, et al. Fam Cancer. 2021 Oct;20(4):349-354. doi: 10.1007/s10689-021-00244-2. Epub 2021 Apr 3. Fam Cancer. 2021. PMID: 33811277 Free PMC article.
We describe a case of a boy with neurodevelopmental delay and a diffuse large B-cell lymphoma (DLBCL) in whom we discovered a germline de novo 2p16.3 deletion including MSH6 and part of the FBXO11 gene. A causative role for MSH6 in cancer development w …
We describe a case of a boy with neurodevelopmental delay and a diffuse large B-cell lymphoma (DLBCL) in whom we discovered a germline de no …
Ketamine Restores Thalamic-Prefrontal Cortex Functional Connectivity in a Mouse Model of Neurodevelopmental Disorder-Associated 2p16.3 Deletion.
B Hughes R, Whittingham-Dowd J, Simmons RE, Clapcote SJ, Broughton SJ, Dawson N. B Hughes R, et al. Cereb Cortex. 2020 Apr 14;30(4):2358-2371. doi: 10.1093/cercor/bhz244. Cereb Cortex. 2020. PMID: 31812984 Free PMC article.
2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia. ...The data provide new insight into the systems-level impact of heteroz …
2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developin …
Phenotypic complexities of rare heterozygous neurexin-1 deletions.
Fernando MB, Fan Y, Zhang Y, Tokolyi A, Murphy AN, Kammourh S, Deans PJM, Ghorbani S, Onatzevitch R, Pero A, Padilla C, Williams SE, Flaherty EK, Prytkova IA, Cao L, Knowles DA, Fang G, Slesinger PA, Brennand KJ. Fernando MB, et al. Nature. 2025 Jun;642(8068):710-720. doi: 10.1038/s41586-025-08864-9. Epub 2025 Apr 9. Nature. 2025. PMID: 40205044
Given the large number of genes significantly associated with risk for neuropsychiatric disorders, a critical unanswered question is the extent to which diverse mutations-sometimes affecting the same gene-will require tailored therapeutic strategies. Here we consider this …
Given the large number of genes significantly associated with risk for neuropsychiatric disorders, a critical unanswered question is the ext …
Pitt-Hopkins Syndrome.
Peippo M, Ignatius J. Peippo M, et al. Mol Syndromol. 2012 Apr;2(3-5):171-180. doi: 10.1159/000335287. Epub 2011 Dec 29. Mol Syndromol. 2012. PMID: 22670138 Free PMC article.
The mutational spectrum includes large chromosomal deletions encompassing the whole TCF4 gene, partial gene deletions, frameshift (including premature stop codon), nonsense, splice site, and missense mutations. ...Recently, a Pitt-Hopkins-like phenotyp …
The mutational spectrum includes large chromosomal deletions encompassing the whole TCF4 gene, partial gene deletion …
Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids.
Sebastian R, Jin K, Pavon N, Bansal R, Potter A, Song Y, Babu J, Gabriel R, Sun Y, Aronow B, Pak C. Sebastian R, et al. Nat Commun. 2023 Jun 24;14(1):3770. doi: 10.1038/s41467-023-39420-6. Nat Commun. 2023. PMID: 37355690 Free PMC article.
De novo mutations and copy number deletions in NRXN1 (2p16.3) pose a significant risk for schizophrenia (SCZ). It is unclear how NRXN1 deletions impact cortical development in a cell type-specific manner and disease background modulates these phenotype …
De novo mutations and copy number deletions in NRXN1 (2p16.3) pose a significant risk for schizophrenia (SCZ). It is un …
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases.
Alfieri P, Scibelli F, Sinibaldi L, Valeri G, Caciolo C, Novello RL, Novelli A, Digilio MC, Tartaglia M, Vicari S. Alfieri P, et al. Genes Brain Behav. 2020 Sep;19(7):e12687. doi: 10.1111/gbb.12687. Epub 2020 Aug 26. Genes Brain Behav. 2020. PMID: 32658356 Free article.
Increasing evidence links heterozygosity for NRXN1 gene deletions to a clinically wide spectrum of neurodevelopmental, psychiatric, and neurological disorders. ...The cognitive and behavioral profiles of five children carrying a heterozygous NRXN1 deletion we …
Increasing evidence links heterozygosity for NRXN1 gene deletions to a clinically wide spectrum of neurodevelopmental, psychia …
61 results