Familial deletion within NLGN4 associated with autism and Tourette syndrome - PubMed (original) (raw)
Case Reports
doi: 10.1038/sj.ejhg.5202006. Epub 2008 Jan 30.
Affiliations
- PMID: 18231125
- DOI: 10.1038/sj.ejhg.5202006
Case Reports
Familial deletion within NLGN4 associated with autism and Tourette syndrome
Amy Lawson-Yuen et al. Eur J Hum Genet. 2008 May.
Abstract
Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that appears to play a role in the maturation and function of neuronal synapses. Mutations in the X-linked NLGN4 gene are a potential cause of autistic spectrum disorders, and mutations have been reported in several patients with autism, Asperger syndrome, and mental retardation. We describe here a family with a wide variation in neuropsychiatric illness associated with a deletion of exons 4, 5, and 6 of NLGN4. The proband is an autistic boy with a motor tic. His brother has Tourette syndrome and attention deficit hyperactivity disorder. Their mother, a carrier, has a learning disorder, anxiety, and depression. This family demonstrates that NLGN4 mutations can be associated with a wide spectrum of neuropsychiatric conditions and that carriers may be affected with milder symptoms.
Similar articles
- Analysis of the neuroligin 4Y gene in patients with autism.
Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH Jr, Sommer SS. Yan J, et al. Psychiatr Genet. 2008 Aug;18(4):204-7. doi: 10.1097/YPG.0b013e3282fb7fe6. Psychiatr Genet. 2008. PMID: 18628683 - Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect.
Macarov M, Zeigler M, Newman JP, Strich D, Sury V, Tennenbaum A, Meiner V. Macarov M, et al. J Intellect Disabil Res. 2007 May;51(Pt 5):329-33. doi: 10.1111/j.1365-2788.2006.00880.x. J Intellect Disabil Res. 2007. PMID: 17391250 - Analysis of four neuroligin genes as candidates for autism.
Ylisaukko-oja T, Rehnström K, Auranen M, Vanhala R, Alen R, Kempas E, Ellonen P, Turunen JA, Makkonen I, Riikonen R, Nieminen-von Wendt T, von Wendt L, Peltonen L, Järvelä I. Ylisaukko-oja T, et al. Eur J Hum Genet. 2005 Dec;13(12):1285-92. doi: 10.1038/sj.ejhg.5201474. Eur J Hum Genet. 2005. PMID: 16077734 - [Autism, genetics and synaptic function alterations].
Perche O, Laumonnier F, Baala L, Ardourel MY, Menuet A, Robin V, Mortaud S, Montécot-Dubourg C, Richard O, Pichon J, Briault S. Perche O, et al. Pathol Biol (Paris). 2010 Oct;58(5):381-6. doi: 10.1016/j.patbio.2009.12.005. Epub 2010 Feb 23. Pathol Biol (Paris). 2010. PMID: 20181440 Review. French. - The possible interplay of synaptic and clock genes in autism spectrum disorders.
Bourgeron T. Bourgeron T. Cold Spring Harb Symp Quant Biol. 2007;72:645-54. doi: 10.1101/sqb.2007.72.020. Cold Spring Harb Symp Quant Biol. 2007. PMID: 18419324 Review.
Cited by
- Exposure to Radiofrequency Induces Synaptic Dysfunction in Cortical Neurons Causing Learning and Memory Alteration in Early Postnatal Mice.
Kim JH, Seok JY, Kim YH, Kim HJ, Lee JK, Kim HR. Kim JH, et al. Int J Mol Sci. 2024 Aug 6;25(16):8589. doi: 10.3390/ijms25168589. Int J Mol Sci. 2024. PMID: 39201275 Free PMC article. - Developing a phenotype risk score for tic disorders in a large, clinical biobank.
Miller-Fleming TW, Allos A, Gantz E, Yu D, Isaacs DA, Mathews CA, Scharf JM, Davis LK. Miller-Fleming TW, et al. Transl Psychiatry. 2024 Jul 28;14(1):311. doi: 10.1038/s41398-024-03011-w. Transl Psychiatry. 2024. PMID: 39069519 Free PMC article. - Implications of Cell Adhesion Molecules in Autism Spectrum Disorder Pathogenesis.
Sindi IA. Sindi IA. J Microsc Ultrastruct. 2022 Aug 4;11(4):199-205. doi: 10.4103/jmau.jmau_15_22. eCollection 2023 Oct-Dec. J Microsc Ultrastruct. 2022. PMID: 38213654 Free PMC article. Review. - Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C; Tourette International Collaborative Genetics (TIC Genetics); Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, Heiman GA, Tischfield JA, Fernandez TV, Owen MJ, O'Donovan MC, Thapar A, State MW, Willsey AJ. Wang S, et al. Nat Commun. 2023 Dec 6;14(1):8077. doi: 10.1038/s41467-023-43776-0. Nat Commun. 2023. PMID: 38057346 Free PMC article. - [Olfactory function and olfactory bulbs in patients with Kallmann syndrome].
Kokoreva KD, Chugunov IS, Vladimirova VP, Ivannikova TE, Bogdanov VP, Bezlepkina OB. Kokoreva KD, et al. Probl Endokrinol (Mosk). 2023 May 11;69(2):67-74. doi: 10.14341/probl13216. Probl Endokrinol (Mosk). 2023. PMID: 37448273 Free PMC article. Russian.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases