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PTCH1 Gene Deletion

MedGen UID:
1617556
Concept ID:
C4528656
Cell or Molecular Dysfunction
Synonyms: Patched 1 Gene Deletion; Patched Homolog (Drosophila) Gene Deletion; Patched Homolog 1 Gene Deletion; PTC Gene Deletion; PTC1 Gene Deletion; PTCH Gene Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the PTCH1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPTCH1 Gene Deletion

Recent clinical studies

Etiology

Saraç M, Canpolat Ş, Önalan Etem E, Tektemur A, Tartar T, Bakal U, Kazez A
J Pediatr Urol 2021 Oct;17(5):630.e1-630.e7. Epub 2021 Jun 30 doi: 10.1016/j.jpurol.2021.06.025. PMID: 34275739
Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH
Ann Lab Med 2019 May;39(3):299-310. doi: 10.3343/alm.2019.39.3.299. PMID: 30623622Free PMC Article
Cambruzzi E
Childs Nerv Syst 2018 May;34(5):809-815. Epub 2018 Mar 26 doi: 10.1007/s00381-018-3765-2. PMID: 29582169
Müller-Decker K
Cancer Metastasis Rev 2011 Dec;30(3-4):343-61. doi: 10.1007/s10555-011-9306-z. PMID: 22038018
Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK
Am J Hum Genet 2008 Feb;82(2):304-19. Epub 2008 Jan 31 doi: 10.1016/j.ajhg.2007.09.023. PMID: 18252212Free PMC Article

Diagnosis

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH
Ann Lab Med 2019 May;39(3):299-310. doi: 10.3343/alm.2019.39.3.299. PMID: 30623622Free PMC Article
Tan IL, Wojcinski A, Rallapalli H, Lao Z, Sanghrajka RM, Stephen D, Volkova E, Korshunov A, Remke M, Taylor MD, Turnbull DH, Joyner AL
Proc Natl Acad Sci U S A 2018 Mar 27;115(13):3392-3397. Epub 2018 Mar 12 doi: 10.1073/pnas.1717815115. PMID: 29531057Free PMC Article
Zhang Q, Wang T, Wang D, Liu J, Yu W, Liu X, Xiang X, Dong K, You F, Zhang G, Ju J, Zhu M, Duan W, Qiao B
Cancer Genet 2015 Dec;208(12):615-20. Epub 2015 Sep 30 doi: 10.1016/j.cancergen.2015.09.006. PMID: 26564558
Delbroek H, Steyaert J, Legius E
Eur J Paediatr Neurol 2011 May;15(3):268-70. Epub 2010 Dec 28 doi: 10.1016/j.ejpn.2010.12.001. PMID: 21190878
Klein RD, Dykas DJ, Bale AE
Genet Med 2005 Nov-Dec;7(9):611-9. doi: 10.1097/01.gim.0000182879.57182.b4. PMID: 16301862

Therapy

Tsuruoka C, Kaminishi M, Shinagawa M, Shang Y, Amasaki Y, Shimada Y, Kakinuma S
Radiat Res 2021 Aug 1;196(2):225-234. doi: 10.1667/RADE-20-00025.1. PMID: 34046685
Niu C, Chen Z, Kim KT, Sun J, Xue M, Chen G, Li S, Shen Y, Zhu Z, Wang X, Liang J, Jiang C, Cong W, Jin L, Li X
Autophagy 2019 May;15(5):843-870. Epub 2019 Jan 27 doi: 10.1080/15548627.2019.1569913. PMID: 30653446Free PMC Article
Mizuno T, Tokuoka S, Kishikawa M, Nakashima E, Mabuchi K, Iwamoto KS
Carcinogenesis 2006 Nov;27(11):2286-94. Epub 2006 Jun 15 doi: 10.1093/carcin/bgl107. PMID: 16777989
Ratner D, Peacocke M, Zhang H, Ping XL, Tsou HC
J Am Acad Dermatol 2001 Feb;44(2):293-7. doi: 10.1067/mjd.2001.112361. PMID: 11174390

Prognosis

Cambruzzi E
Childs Nerv Syst 2018 May;34(5):809-815. Epub 2018 Mar 26 doi: 10.1007/s00381-018-3765-2. PMID: 29582169
Ghosh A, Ghosh S, Maiti GP, Mukherjee S, Mukherjee N, Chakraborty J, Roy A, Roychoudhury S, Panda CK
Ann Surg Oncol 2012 Jul;19 Suppl 3:S528-38. Epub 2011 Aug 23 doi: 10.1245/s10434-011-1991-x. PMID: 21861228
Klein RD, Dykas DJ, Bale AE
Genet Med 2005 Nov-Dec;7(9):611-9. doi: 10.1097/01.gim.0000182879.57182.b4. PMID: 16301862
Savino M, d'Apolito M, Formica V, Baorda F, Mari F, Renieri A, Carabba E, Tarantino E, Andreucci E, Belli S, Lo Muzio L, Dallapiccola B, Zelante L, Savoia A
Hum Mutat 2004 Nov;24(5):441. doi: 10.1002/humu.9289. PMID: 15459969
Zhang H, Ping XL, Lee PK, Wu XL, Yao YJ, Zhang MJ, Silvers DN, Ratner D, Malhotra R, Peacocke M, Tsou HC
Am J Pathol 2001 Feb;158(2):381-5. doi: 10.1016/S0002-9440(10)63980-6. PMID: 11159175Free PMC Article

Clinical prediction guides

Niu C, Chen Z, Kim KT, Sun J, Xue M, Chen G, Li S, Shen Y, Zhu Z, Wang X, Liang J, Jiang C, Cong W, Jin L, Li X
Autophagy 2019 May;15(5):843-870. Epub 2019 Jan 27 doi: 10.1080/15548627.2019.1569913. PMID: 30653446Free PMC Article
Nieuwenhuis E, Barnfield PC, Makino S, Hui CC
Dev Biol 2007 Aug 15;308(2):547-60. Epub 2007 Jun 26 doi: 10.1016/j.ydbio.2007.06.016. PMID: 17631878
Klein RD, Dykas DJ, Bale AE
Genet Med 2005 Nov-Dec;7(9):611-9. doi: 10.1097/01.gim.0000182879.57182.b4. PMID: 16301862
Savino M, d'Apolito M, Formica V, Baorda F, Mari F, Renieri A, Carabba E, Tarantino E, Andreucci E, Belli S, Lo Muzio L, Dallapiccola B, Zelante L, Savoia A
Hum Mutat 2004 Nov;24(5):441. doi: 10.1002/humu.9289. PMID: 15459969
Zhang H, Ping XL, Lee PK, Wu XL, Yao YJ, Zhang MJ, Silvers DN, Ratner D, Malhotra R, Peacocke M, Tsou HC
Am J Pathol 2001 Feb;158(2):381-5. doi: 10.1016/S0002-9440(10)63980-6. PMID: 11159175Free PMC Article

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