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Biallelic Mutation

MedGen UID:
1393375
Concept ID:
C4329454
Cell or Molecular Dysfunction

Definition

A mutation that occurs on both alleles of a single gene. [from NCI]

Professional guidelines

PubMed

Zhou M, Tang J, Fan J, Wen X, Shen J, Jia R, Chai P, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Mar-Apr;13(2):100058. Epub 2024 Apr 12 doi: 10.1016/j.apjo.2024.100058. PMID: 38615905
Łusakowska A, Wójcik A, Frączek A, Aragon-Gawińska K, Potulska-Chromik A, Baranowski P, Nowak R, Rosiak G, Milczarek K, Konecki D, Gierlak-Wójcicka Z, Burlewicz M, Kostera-Pruszczyk A
Orphanet J Rare Dis 2023 Aug 4;18(1):230. doi: 10.1186/s13023-023-02769-4. PMID: 37542300Free PMC Article
Sereno M, Merino M, López-Gómez M, Gómez-Raposo C, Zambrana Tébar F, Moreno Rubio J, Espinós J, Martín-Algarra S, Casado Sáenz E
Clin Transl Oncol 2014 Aug;16(8):675-9. Epub 2014 Mar 19 doi: 10.1007/s12094-014-1171-0. PMID: 24643704

Recent clinical studies

Etiology

Nag A, Khetan V
Indian J Ophthalmol 2024 Jun 1;72(6):778-788. Epub 2024 May 24 doi: 10.4103/IJO.IJO_2414_23. PMID: 38804799Free PMC Article
Tagliapietra M, Incensi A, Ferrarini M, Mesiano N, Furia A, Rizzo G, Liguori R, Cavallaro T, Monaco S, Fabrizi GM, Donadio V
Eur J Neurol 2023 Dec;30(12):3834-3841. Epub 2023 Aug 13 doi: 10.1111/ene.16018. PMID: 37531261
Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ
J Pediatr Gastroenterol Nutr 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926. PMID: 33075013Free PMC Article
Toboeva MK, Shelygin YA, Frolov SA, Kuzminov MA, Tsukanov AS
Ter Arkh 2019 Mar 18;91(2):97-100. doi: 10.26442/00403660.2019.02.000124. PMID: 31094179
Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711. PMID: 28399338

Diagnosis

Zhou M, Tang J, Fan J, Wen X, Shen J, Jia R, Chai P, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Mar-Apr;13(2):100058. Epub 2024 Apr 12 doi: 10.1016/j.apjo.2024.100058. PMID: 38615905
Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ
J Pediatr Gastroenterol Nutr 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926. PMID: 33075013Free PMC Article
Toboeva MK, Shelygin YA, Frolov SA, Kuzminov MA, Tsukanov AS
Ter Arkh 2019 Mar 18;91(2):97-100. doi: 10.26442/00403660.2019.02.000124. PMID: 31094179
AlAli A, Kletke S, Gallie B, Lam WC
Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):160-168. Epub 2018 May 8 doi: 10.22608/APO.201870. PMID: 29737052
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ
PLoS One 2013;8(11):e78496. Epub 2013 Nov 12 doi: 10.1371/journal.pone.0078496. PMID: 24265693Free PMC Article

Therapy

Escherich CS, Chen W, Li Y, Yang W, Nishii R, Li Z, Raetz EA, Devidas M, Wu G, Nichols KE, Inaba H, Pui CH, Jeha S, Camitta BM, Larsen E, Hunger SP, Loh ML, Yang JJ
Blood 2024 May 30;143(22):2270-2283. doi: 10.1182/blood.2023023336. PMID: 38446568Free PMC Article
Łusakowska A, Wójcik A, Frączek A, Aragon-Gawińska K, Potulska-Chromik A, Baranowski P, Nowak R, Rosiak G, Milczarek K, Konecki D, Gierlak-Wójcicka Z, Burlewicz M, Kostera-Pruszczyk A
Orphanet J Rare Dis 2023 Aug 4;18(1):230. doi: 10.1186/s13023-023-02769-4. PMID: 37542300Free PMC Article
Xu N, Chen WM, Li LD, Long LY, Wang X, Jiang Q, Jiang H, Huang XJ, Qin YZ
Clin Exp Med 2023 Oct;23(6):2629-2638. Epub 2023 Jan 13 doi: 10.1007/s10238-023-00995-5. PMID: 36637581
Johnson PH, Weinreb NJ, Cloyd JC, Tuite PJ, Kartha RV
Mol Genet Metab 2020 Feb;129(2):35-46. Epub 2019 Oct 23 doi: 10.1016/j.ymgme.2019.10.006. PMID: 31761523Free PMC Article
Höchsmann B, Murakami Y, Osato M, Knaus A, Kawamoto M, Inoue N, Hirata T, Murata S, Anliker M, Eggermann T, Jäger M, Floettmann R, Höllein A, Murase S, Ueda Y, Nishimura JI, Kanakura Y, Kohara N, Schrezenmeier H, Krawitz PM, Kinoshita T
J Clin Invest 2019 Dec 2;129(12):5123-5136. doi: 10.1172/JCI123501. PMID: 31430258Free PMC Article

Prognosis

Nag A, Khetan V
Indian J Ophthalmol 2024 Jun 1;72(6):778-788. Epub 2024 May 24 doi: 10.4103/IJO.IJO_2414_23. PMID: 38804799Free PMC Article
Zhou M, Tang J, Fan J, Wen X, Shen J, Jia R, Chai P, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Mar-Apr;13(2):100058. Epub 2024 Apr 12 doi: 10.1016/j.apjo.2024.100058. PMID: 38615905
Miyashita N, Onozawa M, Yoshida S, Kimura H, Takahashi S, Yokoyama S, Matsukawa T, Hirabayashi S, Fujisawa S, Mori A, Ota S, Kakinoki Y, Tsutsumi Y, Yamamoto S, Miyagishima T, Nagashima T, Ibata M, Wakasa K, Haseyama Y, Fujimoto K, Ishihara T, Sakai H, Kondo T, Teshima T
Int J Hematol 2023 Jul;118(1):36-46. Epub 2023 Feb 28 doi: 10.1007/s12185-023-03567-1. PMID: 36853451
Lee H, Park S, Yoon JH, Cho BS, Kim HJ, Lee S, Kim DW, Chung NG, Cho B, Kim KB, Yoo J, Jekarl DW, Chae H, Lim J, Kim M, Oh EJ, Kim Y
Sci Rep 2021 Mar 19;11(1):6426. doi: 10.1038/s41598-021-85918-8. PMID: 33742034Free PMC Article
AlAli A, Kletke S, Gallie B, Lam WC
Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):160-168. Epub 2018 May 8 doi: 10.22608/APO.201870. PMID: 29737052

Clinical prediction guides

Batel A, Polović M, Glumac M, Šuman O, Jadrijević S, Lozić B, Petrović M, Samardžija B, Bradshaw NJ, Skube K, Palada V, Acman M, Marinović Terzić I
Cancer Gene Ther 2024 Mar;31(3):376-386. Epub 2023 Dec 12 doi: 10.1038/s41417-023-00708-w. PMID: 38086993
Lorenz B, Künzel SH, Preising MN, Scholz JP, Chang P, Holz FG, Herrmann P
Ophthalmology 2024 Feb;131(2):161-178. Epub 2023 Sep 12 doi: 10.1016/j.ophtha.2023.09.006. PMID: 37704110
Łusakowska A, Wójcik A, Frączek A, Aragon-Gawińska K, Potulska-Chromik A, Baranowski P, Nowak R, Rosiak G, Milczarek K, Konecki D, Gierlak-Wójcicka Z, Burlewicz M, Kostera-Pruszczyk A
Orphanet J Rare Dis 2023 Aug 4;18(1):230. doi: 10.1186/s13023-023-02769-4. PMID: 37542300Free PMC Article
Tagliapietra M, Incensi A, Ferrarini M, Mesiano N, Furia A, Rizzo G, Liguori R, Cavallaro T, Monaco S, Fabrizi GM, Donadio V
Eur J Neurol 2023 Dec;30(12):3834-3841. Epub 2023 Aug 13 doi: 10.1111/ene.16018. PMID: 37531261
Johnson PH, Weinreb NJ, Cloyd JC, Tuite PJ, Kartha RV
Mol Genet Metab 2020 Feb;129(2):35-46. Epub 2019 Oct 23 doi: 10.1016/j.ymgme.2019.10.006. PMID: 31761523Free PMC Article

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