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Page 1
Molecular Insights into IQSEC2 Disease.
Levy NS, Borisov V, Lache O, Levy AP. Levy NS, et al. Int J Mol Sci. 2023 Mar 5;24(5):4984. doi: 10.3390/ijms24054984. Int J Mol Sci. 2023. PMID: 36902414 Free PMC article. Review.
Recent insights into IQSEC2 disease are summarized in this review as follows: (1) Exome sequencing of IQSEC2 patient DNA has led to the identification of numerous missense mutations that delineate at least six and possibly seven essential functional domains present …
Recent insights into IQSEC2 disease are summarized in this review as follows: (1) Exome sequencing of IQSEC2 patient DNA has l …
IQSEC2-Associated Intellectual Disability and Autism.
Levy NS, Umanah GKE, Rogers EJ, Jada R, Lache O, Levy AP. Levy NS, et al. Int J Mol Sci. 2019 Jun 21;20(12):3038. doi: 10.3390/ijms20123038. Int J Mol Sci. 2019. PMID: 31234416 Free PMC article. Review.
Mutations in IQSEC2 cause intellectual disability (ID), which is often accompanied by seizures and autism. ...Here, we review neuronal IQSEC2 signaling with emphasis on those aspects likely to be involved in autism. IQSEC2 is normally bound to N-methyl-D-aspa …
Mutations in IQSEC2 cause intellectual disability (ID), which is often accompanied by seizures and autism. ...Here, we review neurona …
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
Shoubridge C, Harvey RJ, Dudding-Byth T. Shoubridge C, et al. Hum Mutat. 2019 Jan;40(1):5-24. doi: 10.1002/humu.23670. Epub 2018 Nov 8. Hum Mutat. 2019. PMID: 30328660 Review.
The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disability (ID) as the cardinal feature. ...There is a growing number of female patients with de novo loss-of-function variants in IQSEC2 have a more severe phenotype tha …
The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disability (ID) as the cardinal featu …
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F. Lopergolo D, et al. Clin Genet. 2021 Mar;99(3):462-474. doi: 10.1111/cge.13908. Epub 2021 Jan 9. Clin Genet. 2021. PMID: 33368194
IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype relationship for IQSEC2 remains over …
IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined …
IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes.
Liu X, Zhang S, Wan L, Zhang X, Wang H, Zhang H, Zhu G, Liang Y, Yan H, Zhang B, Yang G. Liu X, et al. Front Mol Neurosci. 2022 Oct 3;15:984776. doi: 10.3389/fnmol.2022.984776. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36267700 Free PMC article.
The isoleucine-glutamine (IQ) motif and Sec7 domain-containing protein 2 (IQSEC2) gene, located at Xp11. 2, are associated with nervous system diseases, such as epilepsy, autism, and intellectual disabilities. ...Here, we report the details of seven male children with I …
The isoleucine-glutamine (IQ) motif and Sec7 domain-containing protein 2 (IQSEC2) gene, located at Xp11. 2, are associated with nervo …
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Shoubridge C, Dudding-Byth T, Pasquier L, Goel H, Yap P, McConnell V. Shoubridge C, et al. Clin Genet. 2022 Jul;102(1):72-77. doi: 10.1111/cge.14136. Epub 2022 Apr 6. Clin Genet. 2022. PMID: 35347702 Free PMC article.
Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. ...We describe the phenotypic spectrum associated with missense variants in PH domain of …
Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, w …
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. Mignot C, et al. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Genet Med. 2019. PMID: 30206421 Free PMC article.
We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms. RESULTS: IQSEC2 pathogenic variants mainly led to premature truncation and were scattered throughout the longest brain-specific isoform, encoding the synaptic …
We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms. RESULTS: IQSEC2 pa …
IQSEC2/BRAG1 may modulate postsynaptic density assembly through Ca2+-induced phase separation.
Bai G, Huang R, Nan X, Zhuang M, Wu M, Lian Y, Cai Q, Tian H, Lu Y, Li H, Zhang M. Bai G, et al. J Cell Biol. 2025 Dec 1;224(12):e202503076. doi: 10.1083/jcb.202503076. Epub 2025 Oct 22. J Cell Biol. 2025. PMID: 41123449
Mechanistically, Ca2+-induced conformational opening leads to phase separation-mediated condensation of IQSEC2 at synapses, a process that requires the N-terminal multimerization domain and intrinsically disordered regions of IQSEC2. ...Thus, IQSEC2 can bidir …
Mechanistically, Ca2+-induced conformational opening leads to phase separation-mediated condensation of IQSEC2 at synapses, a process …
Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions.
Bai G, Li H, Qin P, Guo Y, Yang W, Lian Y, Ye F, Chen J, Wu M, Huang R, Li J, Lu Y, Zhang M. Bai G, et al. J Cell Biol. 2023 Dec 4;222(12):e202307117. doi: 10.1083/jcb.202307117. Epub 2023 Oct 3. J Cell Biol. 2023. PMID: 37787765 Free PMC article.
IQSEC2 (aka BRAG1) is a guanine nucleotide exchange factor (GEF) highly enriched in synapses. ...Our study demonstrates that different mutations on one gene such as Iqsec2 can have distinct neurological phenotypes and accordingly will require different therapeutic s …
IQSEC2 (aka BRAG1) is a guanine nucleotide exchange factor (GEF) highly enriched in synapses. ...Our study demonstrates that differen …
111 results