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X-linked recessive inheritance

MedGen UID:
375779
Concept ID:
C1845977
Finding
Synonym: X-linked recessive
 
HPO: HP:0001419
Orphanet: ORPHA409932

Definition

A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked recessive inheritance

Professional guidelines

PubMed

McReynolds LJ, Savage SA
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):242-250. doi: 10.1182/asheducation-2017.1.242. PMID: 29222262Free PMC Article
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article
Kodama H, Murata Y, Kobayashi M
Pediatr Int 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. PMID: 10453199

Recent clinical studies

Etiology

Yu QX, Li YL, Zhang YL, Lin XM, Zhen L, Li DZ
Prenat Diagn 2022 Dec;42(13):1622-1626. Epub 2022 Nov 7 doi: 10.1002/pd.6259. PMID: 36326072
Arunachalam AK, Maddali M, Aboobacker FN, Korula A, George B, Mathews V, Edison ES
J Clin Immunol 2021 Feb;41(2):393-413. Epub 2020 Nov 23 doi: 10.1007/s10875-020-00923-2. PMID: 33225392Free PMC Article
McReynolds LJ, Savage SA
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):242-250. doi: 10.1182/asheducation-2017.1.242. PMID: 29222262Free PMC Article
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article
King PA, Ghosh A, Tang MH, Lam SK
Prenat Diagn 1991 Oct;11(10):809-11. doi: 10.1002/pd.1970111010. PMID: 1800993

Diagnosis

Yu QX, Li YL, Zhang YL, Lin XM, Zhen L, Li DZ
Prenat Diagn 2022 Dec;42(13):1622-1626. Epub 2022 Nov 7 doi: 10.1002/pd.6259. PMID: 36326072
McReynolds LJ, Savage SA
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):242-250. doi: 10.1182/asheducation-2017.1.242. PMID: 29222262Free PMC Article
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article
Mohamed M, Voet M, Gardeitchik T, Morava E
Adv Exp Med Biol 2014;802:161-84. doi: 10.1007/978-94-007-7893-1_11. PMID: 24443027
MacDonald IM, Sereda C, McTaggart K, Mah D
Expert Rev Mol Diagn 2004 Jul;4(4):478-84. doi: 10.1586/14737159.4.4.478. PMID: 15225095

Therapy

Vijayasarathy C, Sardar Pasha SPB, Sieving PA
Prog Retin Eye Res 2022 Mar;87:100999. Epub 2021 Aug 11 doi: 10.1016/j.preteyeres.2021.100999. PMID: 34390869
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article
Barnard AR, Groppe M, MacLaren RE
Cold Spring Harb Perspect Med 2014 Oct 30;5(3):a017293. doi: 10.1101/cshperspect.a017293. PMID: 25359548Free PMC Article
Ali S, Seth R
Semin Ophthalmol 2013 Jan;28(1):50-4. doi: 10.3109/08820538.2012.667496. PMID: 23163265
Kodama H, Murata Y, Kobayashi M
Pediatr Int 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. PMID: 10453199

Prognosis

Chuang CK, Tu YR, Lee CL, Lo YT, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Lin HY, Lin SP
Int J Mol Sci 2022 Sep 1;23(17) doi: 10.3390/ijms23179979. PMID: 36077388Free PMC Article
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A
Neurogenetics 2017 Dec;18(4):185-194. Epub 2017 Aug 26 doi: 10.1007/s10048-017-0520-x. PMID: 28842795Free PMC Article
Van Buggenhout G, Fryns JP
Orphanet J Rare Dis 2006 Jul 10;1:26. doi: 10.1186/1750-1172-1-26. PMID: 16831221Free PMC Article
Galjaard RJ, Kostakoglu N, Hoogeboom JJ, Breedveld GJ, van der Linde HC, Hovius SE, Oostra BA, Sandkuijl LA, Akarsu AN, Heutink P
Eur J Hum Genet 2001 Sep;9(9):653-8. doi: 10.1038/sj.ejhg.5200692. PMID: 11571552
Beke A, Papp Z
J Perinat Med 2001;29(3):230-4. doi: 10.1515/JPM.2001.032. PMID: 11447927

Clinical prediction guides

Vijayasarathy C, Sardar Pasha SPB, Sieving PA
Prog Retin Eye Res 2022 Mar;87:100999. Epub 2021 Aug 11 doi: 10.1016/j.preteyeres.2021.100999. PMID: 34390869
Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article
Chentouf A, Dahdouh A, Guipponi M, Oubaiche ML, Chaouch M, Hamamy H, Antonarakis SE
Seizure 2015 Sep;31:12-8. Epub 2015 Jul 3 doi: 10.1016/j.seizure.2015.06.015. PMID: 26362371
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

Recent systematic reviews

Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY
Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article

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