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TANGO2 Deficiency.
Miyake CY, Burrage L, Glinton K, Houck K, Hoyos-Martinez A, Graham B, Yang Y, Rawls-Castillo B, Scaglia F, Soler-Alfonso C, Lalani SR. Miyake CY, et al. 2018 Jan 25 [updated 2023 Mar 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Jan 25 [updated 2023 Mar 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29369572 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: TANGO2 deficiency is characterized by developmental delay, intellectual disability, gait incoordination, speech difficulties, seizures, and hypothyroidism. ...In addition, life-threatening acute metabolic crises can occur, including rhabdomyolysis …
CLINICAL CHARACTERISTICS: TANGO2 deficiency is characterized by developmental delay, intellectual disability, gait incoordination, sp …
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Miyake CY, et al. Genet Med. 2023 Apr;25(4):100352. doi: 10.1016/j.gim.2022.11.020. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36473599 Free PMC article. Review.
PURPOSE: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. ...The median age of participan …
PURPOSE: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmen …
Mitochondrial dysfunction associated with TANGO2 deficiency.
Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes E, Haas R, Vockley J, Ghaloul-Gonzalez L. Heiman P, et al. Sci Rep. 2022 Feb 23;12(1):3045. doi: 10.1038/s41598-022-07076-9. Sci Rep. 2022. PMID: 35197517 Free PMC article.
Transport and Golgi Organization protein 2 Homolog (TANGO2)-related disease is an autosomal recessive disorder caused by mutations in the TANGO2 gene. ...Functional studies revealed that TANGO2 protein was present in mitochondrial extracts of control cells bu …
Transport and Golgi Organization protein 2 Homolog (TANGO2)-related disease is an autosomal recessive disorder caused by mutations in …
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L, Pramanik G; Undiagnosed Diseases Network; Yarlagadda V, Wheeler M, Bernstein JA, Enns GM, Lee C. Schymick J, et al. Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19. Am J Med Genet A. 2022. PMID: 34668327 Review.
Biallelic pathogenic variants in the TANGO2 (transport and Golgi organization 2 homolog) gene have been identified as causing a rare metabolic disorder characterized by susceptibility to recurrent rhabdomyolysis, lactic acidosis, encephalopathy, and life-threatening tachya …
Biallelic pathogenic variants in the TANGO2 (transport and Golgi organization 2 homolog) gene have been identified as causing a rare …
B-complex vitamins for patients with TANGO2-deficiency disorder.
Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, de Lonlay P, Lalani SR, Miyake CY, Mackenzie SJ. Sandkuhler SE, et al. J Inherit Metab Dis. 2023 Mar;46(2):161-162. doi: 10.1002/jimd.12585. Epub 2022 Dec 30. J Inherit Metab Dis. 2023. PMID: 36550018 Free PMC article. No abstract available.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC. Dines JN, et al. Genet Med. 2019 Mar;21(3):601-607. doi: 10.1038/s41436-018-0137-y. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245509 Free PMC article.
PURPOSE: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. ...We expand the phenotype and genotype for TANGO2, highlighting the variability o …
PURPOSE: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2- …
Bacterial TANGO2 homologs are heme-trafficking proteins that facilitate biosynthesis of cytochromes c.
Han S, Guo K, Wang W, Tao YJ, Gao H. Han S, et al. mBio. 2023 Aug 31;14(4):e0132023. doi: 10.1128/mbio.01320-23. Epub 2023 Jul 18. mBio. 2023. PMID: 37462360 Free PMC article.
In its absence, the cytochrome (cyt) c content and catalase activity decreased significantly. We further showed that both HtpA and representative TANGO2 proteins bind heme with 1:1 stoichiometry and a relatively low dissociation constant. ...Here we developed a high-throug …
In its absence, the cytochrome (cyt) c content and catalase activity decreased significantly. We further showed that both HtpA and represent …
TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis.
Dias JV, Carvalho AA, Freixo JP, Antunes D, Martins AA, Painho T, Jacinto S. Dias JV, et al. Pediatr Neurol. 2023 Oct;147:52-55. doi: 10.1016/j.pediatrneurol.2023.07.010. Epub 2023 Jul 16. Pediatr Neurol. 2023. PMID: 37562170
BACKGROUND: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. ...CONCLUSIONS: A high index of suspicion for TANGO2 deficiency disorder is needed in patients with developmental delay or other neurological symptoms …
BACKGROUND: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. ...CONCLUSIONS: A …
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.
Sen K, Hicks MA, Huq AHM, Agarwal R. Sen K, et al. Neuropediatrics. 2019 Apr;50(2):122-125. doi: 10.1055/s-0038-1677514. Epub 2019 Jan 16. Neuropediatrics. 2019. PMID: 30650451 Review.
Eventually a trio whole exome sequencing (WES) revealed homozygous single nucleotide variants in TANGO2 gene. DISCUSSION: TANGO2 related recurrent metabolic crises with encephalomyopathy and cardiac arrhythmias were described very recently and only 15 cases were rep …
Eventually a trio whole exome sequencing (WES) revealed homozygous single nucleotide variants in TANGO2 gene. DISCUSSION: TANGO2 …
82 results