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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

Hodgkin Lymphoma in a Patient With IFAP Syndrome: A Case Report and Review of Literature.
Shakibazad N, Shahriari M, Inaloo S
J Pediatr Hematol Oncol 2018 Apr;40(3):227-230. doi: 10.1097/MPH.0000000000000894. PMID: 28654459
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
Metacarpal 4-5 fusion with X-linked recessive inheritance.
Holmes LB, Wolf E, Miettinen OS
Am J Hum Genet 1972 Sep;24(5):562-8. PMID: 4538283Free PMC Article
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

Hodgkin Lymphoma in a Patient With IFAP Syndrome: A Case Report and Review of Literature.
Shakibazad N, Shahriari M, Inaloo S
J Pediatr Hematol Oncol 2018 Apr;40(3):227-230. doi: 10.1097/MPH.0000000000000894. PMID: 28654459
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
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
Boomerang dysplasia.
Winship I, Cremin B, Beighton P
Am J Med Genet 1990 Aug;36(4):440-3. doi: 10.1002/ajmg.1320360413. PMID: 2202214

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
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
Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide.
Livingstone IR, Gardner-Medwin D, Pennington RJ
J Neurol Sci 1984 Apr;64(1):89-97. doi: 10.1016/0022-510x(84)90059-5. PMID: 6539810

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
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Surgical Treatment of Neglected Bilateral Hemophilic Equinus Contracture With External Fixation: A Case Report.
Yontar NS, Can A, Ögüt T
J Foot Ankle Surg 2018 May-Jun;57(3):605-609. Epub 2018 Feb 19 doi: 10.1053/j.jfas.2017.10.022. PMID: 29472170
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
Urologic abnormalities in Menkes' kinky hair disease: report of three cases.
Oshio T, Hino M, Kirino A, Matsumura C, Fukuda K
J Pediatr Surg 1997 May;32(5):782-4. doi: 10.1016/s0022-3468(97)90035-x. PMID: 9165480

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
Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study
Birth Defects Res 2022 Apr;114(7):215-227. Epub 2022 Mar 10 doi: 10.1002/bdr2.1987. PMID: 35274497Free 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
Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects.
Newton R, Stanier P, Loughna S, Henderson DJ, Forbes SA, Farrall M, Jensson O, Moore GE
Clin Genet 1994 May;45(5):241-9. doi: 10.1111/j.1399-0004.1994.tb04149.x. PMID: 8076409

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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