2025

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• The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders

Karantza M, Lee H, Kitsiou S, et al. The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders. Hormones (Athens, Greece). 2025;24(1):283-286. doi:https://doi.org/10.1007/s42000-024-00615-1

https://pubmed.ncbi.nlm.nih.gov/39581956/

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• Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) gene

Street D, Teare L, Georgieva T, et al. Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) gene. Parkinsonism & related disorders. Published online July 2025:107822. doi:https://doi.org/10.1016/j.parkreldis.2025.107822

https://pubmed.ncbi.nlm.nih.gov/40210557/

 

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2024

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• GNB1-Related Rod-Cone Dystrophy: A Case Report

Conti GM, Cancellieri F, Mathieu Quinodoz, et al. GNB1-Related Rod-Cone Dystrophy: A Case Report. Case Reports in Ophthalmology. 2024;15(1):230-237. doi:https://doi.org/10.1159/000537997

‌https://pubmed.ncbi.nlm.nih.gov/38500542/

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• GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity

Lotte Kleinendorst, Abawi O, Vos N, et al. GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity. Clinical Obesity. 2024;14(4). doi:https://doi.org/10.1111/cob.12661

‌https://pubmed.ncbi.nlm.nih.gov/38596856/

 

• GNB1 Encephalopathy: Clinical Case Report and Literature Review

Matas Nasvytis, Julija Čiauškaitė, Giedrė Jurkevičienė. GNB1 Encephalopathy: Clinical Case Report and Literature Review. Medicina. 2024;60(4):589-589. doi:https://doi.org/10.3390/medicina60040589

‌https://pubmed.ncbi.nlm.nih.gov/38674235/

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• Novel GNB1 Variant and the Development of Spastic Diplegic Cerebral Palsy

Piché JV, Shevell M. Novel GNB1 Variant and the Development of Spastic Diplegic Cerebral Palsy. The Canadian journal of neurological sciences Le journal canadien des sciences neurologiques. Published online 2024:1-2. doi:https://doi.org/10.1017/cjn.2024.318

‌https://pubmed.ncbi.nlm.nih.gov/39473170/

 

 

2023

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• Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history

Yang XR, Kassam F, Innes AM. Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history. American journal of medical genetics Part C, Seminars in medical genetics. 2023;193(2):183-187. doi:https://doi.org/10.1002/ajmg.c.32045

https://pubmed.ncbi.nlm.nih.gov/37212526/

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• Comment on “Cutaneous mastocytosis in a child with a de novo GNB1 mutation

Ramírez CG, Azaña Defez JM, Clemente SP, Sanz PL, Córdoba SM. Comment on “Cutaneous mastocytosis in a child with a de novo GNB1 mutation.” Pediatric dermatology. 2023;40(6):1164-1165. doi:https://doi.org/10.1111/pde.15279

‌https://pubmed.ncbi.nlm.nih.gov/37970691/

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• Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy

Tsuji M, Ikeda A, Tsuyusaki Y, et al. Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy. Brain Dev. 2023;45(8):462-466. doi:10.1016/j.braindev.2023.06.005

https://pubmed.ncbi.nlm.nih.gov/37453880/ 

 

 

2022

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• Cutaneous mastocytosis in a child with a de novo GNB1 mutation

Lattanzio K, Larijani M, Treat JR. Cutaneous mastocytosis in a child with a de novo GNB1 mutation. Pediatric dermatology. 2022;39(2):328-329. doi:https://doi.org/10.1111/pde.14913

https://pubmed.ncbi.nlm.nih.gov/35119134/

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• Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy

Galosi S, Pollini L, Nardecchia F, Cellini E, Guerrini R, Leuzzi V. Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy. Movement Disorders Clinical Practice. 2022;9(S2). doi:https://doi.org/10.1002/mdc3.13525

https://pubmed.ncbi.nlm.nih.gov/36118517/

 

 

2021

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• Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42

Ren Y, Lyu Y, Ma J, et al. Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021;38(6):565-568. doi:https://doi.org/10.3760/cma.j.cn511374-20200121-00044

https://pubmed.ncbi.nlm.nih.gov/34096027/

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• Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.

Lansdon LA, Saunders CJ. Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate. American journal of medical genetics Part A. 2021;185(4):1341-1343. doi:https://doi.org/10.1002/ajmg.a.62080

https://pubmed.ncbi.nlm.nih.gov/33427398/

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• Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay with Intellectual Disability and Behavioral Disorders

Da Silva JD, Costa MD, Almeida B, Lopes F, Maciel P, Teixeira-Castro A. Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay with Intellectual Disability and Behavioral Disorders. Front Neurol. 2021;12:735549. 2021. doi:10.3389/fneur.2021.735549

https://pubmed.ncbi.nlm.nih.gov/34646230/  

 

 

2020

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• Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

Endo W, Ikemoto S, Togashi N, et al. Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. Brain & development. 2020;42(2):199-204. doi:https://doi.org/10.1016/j.braindev.2019.10.006

https://pubmed.ncbi.nlm.nih.gov/31735425/

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• GNB1 Encephalopathy

Revah-Politi A, Sands TT, Colombo S, Goldstein DB, Anyane-Yeboa K. GNB1 Encephalopathy. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2020.

https://pubmed.ncbi.nlm.nih.gov/32134617/ 

 

 

2019

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• Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation

Jones HF, Morales-Briceño H, Barwick K, et al. Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. Movement disorders : official journal of the Movement Disorder Society. 2019;34(7):1079-1080. doi:https://doi.org/10.1002/mds.27708

‌https://pubmed.ncbi.nlm.nih.gov/31034681/

 

 

2018

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• Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Hemati P, Revah-Politi A, Bassan H, et al. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Am J Med Genet A. 2018;176(11):2259-2275. doi:10.1002/ajmg.a.40472

https://pubmed.ncbi.nlm.nih.gov/30194818/ 

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• Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

Szczałuba K, Biernacka A, Szymańska K, et al. Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review. Eur J Med Genet. 2018;61(3):157-160. doi:10.1016/j.ejmg.2017.11.010. 

https://pubmed.ncbi.nlm.nih.gov/29174093/ 

 

 

2017

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• Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Lohmann K, Masuho I, Patil DN, et al. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. Hum Mol Genet. 2017;26(6):1078-1086. doi:10.1093/hmg/ddx018. 

https://academic.oup.com/hmg/article/26/6/1078/2901823 

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2016

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• Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Steinrücke S, Lohmann K, Domingo A, et al. Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. Neurology Genetics. 2016;2(5):e106. doi:https://doi.org/10.1212/NXG.0000000000000106

https://pubmed.ncbi.nlm.nih.gov/27668284/

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• Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski S, Küry S, Myers CT, et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016;98(5):1001-1010. doi:10.1016/j.ajhg.2016.03.011. 

https://pubmed.ncbi.nlm.nih.gov/27108799/