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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

Pediatric leukemia susceptibility disorders: manifestations and management.
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
Corticosteroids for the treatment of Duchenne muscular dystrophy.
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
Clinical manifestations and treatment of Menkes disease and its variants.
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

Pediatric leukemia susceptibility disorders: manifestations and management.
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
Corticosteroids for the treatment of Duchenne muscular dystrophy.
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
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771
Recurrent congenital chylothorax.
King PA, Ghosh A, Tang MH, Lam SK
Prenat Diagn 1991 Oct;11(10):809-11. doi: 10.1002/pd.1970111010. PMID: 1800993
X-linked recessive inheritance in the Ehlers-Danlos syndrome.
Beighton P
Br Med J 1968 Aug 17;3(5615):409-11. doi: 10.1136/bmj.3.5615.409. PMID: 5302130Free PMC Article

Diagnosis

Corticosteroids for the treatment of Duchenne muscular dystrophy.
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
Cutis Laxa.
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
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
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
Choroideremia gene testing.
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
The KBG syndrome.
Smithson SF, Thompson EM, McKinnon AG, Smith IS, Winter RM
Clin Dysmorphol 2000 Apr;9(2):87-91. doi: 10.1097/00019605-200009020-00002. PMID: 10826617

Therapy

Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.
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
Corticosteroids for the treatment of Duchenne muscular dystrophy.
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
Gene therapy for choroideremia using an adeno-associated viral (AAV) vector.
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
X-linked juvenile retinoschisis in females and response to carbonic anhydrase inhibitors: case report and review of the literature.
Ali S, Seth R
Semin Ophthalmol 2013 Jan;28(1):50-4. doi: 10.3109/08820538.2012.667496. PMID: 23163265
Clinical manifestations and treatment of Menkes disease and its variants.
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

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. PMID: 37749571Free PMC Article
X-linked adrenoleukodystrophy diagnosed in three brothers.
Herman M, Jura M, Krakowska K, Barg E
Pediatr Endocrinol Diabetes Metab 2019;25(2):95-98. doi: 10.5114/pedm.2019.85821. PMID: 31343142
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
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
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
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
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
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

Clinical prediction guides

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. PMID: 37749571Free PMC Article
Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.
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
Corticosteroids for the treatment of Duchenne muscular dystrophy.
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
Familial epilepsy in Algeria: Clinical features and inheritance profiles.
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
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
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

Recent systematic reviews

Corticosteroids for the treatment of Duchenne muscular dystrophy.
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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