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Gene Abnormality

MedGen UID:
274572
•Concept ID:
C1517478
•
Cell or Molecular Dysfunction

Definition

A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGene Abnormality

Professional guidelines

PubMed

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.
Ouhenach M, Zrhidri A, Jaouad IC, Smaili W, Sefiani A
BMC Med Genet 2020 Dec 12;21(1):240. doi: 10.1186/s12881-020-01167-y. PMID: 33308164Free PMC Article
Treatment of adverse perinatal outcome in inherited thrombophilias: a clinical study.
Kosar A, Kasapoglu B, Kalyoncu S, Turan H, Balcik OS, Gümüs EI
Blood Coagul Fibrinolysis 2011 Jan;22(1):14-8. doi: 10.1097/MBC.0b013e32834013f2. PMID: 21042205
A genetic approach to the pathogenesis of primary hypertension and to its treatment.
Bianchi G, Ferrari P
Clin Exp Pharmacol Physiol 1995 Dec;22(12):S399-405. PMID: 8846504

Recent clinical studies

Etiology

New STAG3 gene variant as a cause of premature ovarian insufficiency.
Gómez-Rojas S, Aristizábal-Duque JE, Muñoz-Fernández LF, Sarmiento-Ramón MP, Pereira-Gómez MDP
Rev Colomb Obstet Ginecol 2022 Mar 30;73(1):142-148. doi: 10.18597/rcog.3806. PMID: 35503298Free PMC Article
The receptor hypothesis and the pathogenesis of depression: Genetic bases and biological correlates.
Wang HQ, Wang ZZ, Chen NH
Pharmacol Res 2021 May;167:105542. Epub 2021 Mar 10 doi: 10.1016/j.phrs.2021.105542. PMID: 33711432
Pembrolizumab in Relapsed or Refractory Primary Mediastinal Large B-Cell Lymphoma.
Armand P, Rodig S, Melnichenko V, Thieblemont C, Bouabdallah K, Tumyan G, Özcan M, Portino S, Fogliatto L, Caballero MD, Walewski J, Gulbas Z, Ribrag V, Christian B, Perini GF, Salles G, Svoboda J, Zain J, Patel S, Chen PH, Ligon AH, Ouyang J, Neuberg D, Redd R, Chatterjee A, Balakumaran A, Orlowski R, Shipp M, Zinzani PL
J Clin Oncol 2019 Dec 1;37(34):3291-3299. Epub 2019 Oct 14 doi: 10.1200/JCO.19.01389. PMID: 31609651Free PMC Article
Advances in the understanding of cluster headache.
Leone M, Proietti Cecchini A
Expert Rev Neurother 2017 Feb;17(2):165-172. Epub 2016 Aug 8 doi: 10.1080/14737175.2016.1216796. PMID: 27454989
X linked mental retardation.
Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760

Diagnosis

The receptor hypothesis and the pathogenesis of depression: Genetic bases and biological correlates.
Wang HQ, Wang ZZ, Chen NH
Pharmacol Res 2021 May;167:105542. Epub 2021 Mar 10 doi: 10.1016/j.phrs.2021.105542. PMID: 33711432
New approaches to gene and cell therapy for hemophilia.
Ohmori T, Mizukami H, Ozawa K, Sakata Y, Nishimura S
J Thromb Haemost 2015 Jun;13 Suppl 1:S133-42. doi: 10.1111/jth.12926. PMID: 26149014
Current practice for pulmonary hypertension.
Satoh T
Chin Med J (Engl) 2014;127(19):3491-5. PMID: 25269919
Genetics of pituitary adenomas.
Gadelha MR, Trivellin G, Hernández Ramírez LC, Korbonits M
Front Horm Res 2013;41:111-40. Epub 2013 Mar 19 doi: 10.1159/000345673. PMID: 23652674
Degenerative ataxias.
Subramony SH
Curr Opin Neurol 1994 Aug;7(4):316-22. doi: 10.1097/00019052-199408000-00007. PMID: 7952239

Therapy

Pembrolizumab in Relapsed or Refractory Primary Mediastinal Large B-Cell Lymphoma.
Armand P, Rodig S, Melnichenko V, Thieblemont C, Bouabdallah K, Tumyan G, Özcan M, Portino S, Fogliatto L, Caballero MD, Walewski J, Gulbas Z, Ribrag V, Christian B, Perini GF, Salles G, Svoboda J, Zain J, Patel S, Chen PH, Ligon AH, Ouyang J, Neuberg D, Redd R, Chatterjee A, Balakumaran A, Orlowski R, Shipp M, Zinzani PL
J Clin Oncol 2019 Dec 1;37(34):3291-3299. Epub 2019 Oct 14 doi: 10.1200/JCO.19.01389. PMID: 31609651Free PMC Article
Advances in the understanding of cluster headache.
Leone M, Proietti Cecchini A
Expert Rev Neurother 2017 Feb;17(2):165-172. Epub 2016 Aug 8 doi: 10.1080/14737175.2016.1216796. PMID: 27454989
Journey through the clinics - The experience of a woman with BRCA2.
Abernethy K
Post Reprod Health 2015 Dec;21(4):158-60. doi: 10.1177/2053369115611015. PMID: 26612439
New approaches to gene and cell therapy for hemophilia.
Ohmori T, Mizukami H, Ozawa K, Sakata Y, Nishimura S
J Thromb Haemost 2015 Jun;13 Suppl 1:S133-42. doi: 10.1111/jth.12926. PMID: 26149014
Retinoid chemoprevention in patients at high risk for skin cancer.
DiGiovanna JJ
Med Pediatr Oncol 2001 May;36(5):564-7. doi: 10.1002/mpo.1131. PMID: 11340613

Prognosis

p53 aberration and TFE3 gene amplification may be predictors of adverse prognosis in epithelioid angiomyolipoma of the kidney.
Zhang Y, Wei X, Teng X, Chen G
Diagn Pathol 2023 Feb 6;18(1):14. doi: 10.1186/s13000-023-01298-9. PMID: 36740682Free PMC Article
New STAG3 gene variant as a cause of premature ovarian insufficiency.
Gómez-Rojas S, Aristizábal-Duque JE, Muñoz-Fernández LF, Sarmiento-Ramón MP, Pereira-Gómez MDP
Rev Colomb Obstet Ginecol 2022 Mar 30;73(1):142-148. doi: 10.18597/rcog.3806. PMID: 35503298Free PMC Article
Pembrolizumab in Relapsed or Refractory Primary Mediastinal Large B-Cell Lymphoma.
Armand P, Rodig S, Melnichenko V, Thieblemont C, Bouabdallah K, Tumyan G, Özcan M, Portino S, Fogliatto L, Caballero MD, Walewski J, Gulbas Z, Ribrag V, Christian B, Perini GF, Salles G, Svoboda J, Zain J, Patel S, Chen PH, Ligon AH, Ouyang J, Neuberg D, Redd R, Chatterjee A, Balakumaran A, Orlowski R, Shipp M, Zinzani PL
J Clin Oncol 2019 Dec 1;37(34):3291-3299. Epub 2019 Oct 14 doi: 10.1200/JCO.19.01389. PMID: 31609651Free PMC Article
Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.
Hirashio S, Ueno T, Naito T, Masaki T
Clin Exp Nephrol 2014 Apr;18(2):189-93. Epub 2013 Oct 31 doi: 10.1007/s10157-013-0895-4. PMID: 24174160
LIS1 duplication: expanding the phenotype.
Lockrow JP, Holden KR, Dwivedi A, Matheus MG, Lyons MJ
J Child Neurol 2012 Jun;27(6):791-5. Epub 2011 Dec 21 doi: 10.1177/0883073811425972. PMID: 22190508

Clinical prediction guides

AZD8186 in Combination With Paclitaxel in Patients With Advanced Gastric Cancer: Results From a Phase Ib/II Study (KCSG ST18-20).
Suh KJ, Ryu MH, Zang DY, Bae WK, Lee HS, Oh HJ, Kang M, Kim JW, Kim BJ, Mortimer PGS, Kim HJ, Lee KW
Oncologist 2023 Sep 7;28(9):e823-e834. doi: 10.1093/oncolo/oyad059. PMID: 37036671Free PMC Article
p53 aberration and TFE3 gene amplification may be predictors of adverse prognosis in epithelioid angiomyolipoma of the kidney.
Zhang Y, Wei X, Teng X, Chen G
Diagn Pathol 2023 Feb 6;18(1):14. doi: 10.1186/s13000-023-01298-9. PMID: 36740682Free PMC Article
Full-length mutation search of the TP53 gene in acute myeloid leukemia has increased significance as a prognostic factor.
Terada K, Yamaguchi H, Ueki T, Usuki K, Kobayashi Y, Tajika K, Gomi S, Kurosawa S, Miyadera K, Tokura T, Omori I, Marumo A, Fujiwara Y, Yui S, Ryotokuji T, Osaki Y, Arai K, Kitano T, Kosaka F, Wakita S, Tamai H, Fukuda T, Inokuchi K
Ann Hematol 2018 Jan;97(1):51-61. Epub 2017 Oct 4 doi: 10.1007/s00277-017-3143-2. PMID: 28980058
LIS1 duplication: expanding the phenotype.
Lockrow JP, Holden KR, Dwivedi A, Matheus MG, Lyons MJ
J Child Neurol 2012 Jun;27(6):791-5. Epub 2011 Dec 21 doi: 10.1177/0883073811425972. PMID: 22190508
Hereditary progressive dystonia with marked diurnal fluctuation.
Segawa M
Brain Dev 2000 Sep;22 Suppl 1:S65-80. doi: 10.1016/s0387-7604(00)00148-0. PMID: 10984664

Recent systematic reviews

X linked mental retardation.
Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760

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