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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
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114
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

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
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
Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.
Puck JM
Pediatr Res 1993 Jan;33(1 Suppl):S29-33; discussion S33-4. doi: 10.1203/00006450-199305001-00158. PMID: 8433872
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
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
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
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
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
Genetic components of perinatal morbidity and mortality.
Beke A, Papp Z
J Perinat Med 2001;29(3):230-4. doi: 10.1515/JPM.2001.032. PMID: 11447927

Clinical prediction guides

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
Clinical and inheritance profile of familial childhood epilepsy in Jordan.
Masri A, Hamamy H
Seizure 2013 Jul;22(6):443-51. Epub 2013 Mar 20 doi: 10.1016/j.seizure.2013.02.017. PMID: 23522625
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
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

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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