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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

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
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 of the autosomal recessive type in a consanguineous family.
de Schepper S, Loeys B, de Paepe A, Lambert J, Naeyaert JM
Eur J Dermatol 2003 Nov-Dec;13(6):529-33. PMID: 14721770
Red cell glucose-6-phosphate dehydrogenase deficiency in Finland. Characterization of a new variant with severe enzyme deficiency.
Vuopio P, Härkönen M, Helske T, Näveri H
Scand J Haematol 1975 Sep;15(2):145-52. doi: 10.1111/j.1600-0609.1975.tb01066.x. PMID: 1188317

Diagnosis

Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations.
El Kadiri Y, Selouani Y, Ratbi I, Lyahyai J, Zrhidri A, Sahli M, Ouhenach M, Jaouad IC, Sefiani A, Sbiti A
Clin Chim Acta 2020 Jul;506:28-32. Epub 2020 Mar 10 doi: 10.1016/j.cca.2020.03.018. PMID: 32169422
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
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
The Weaver syndrome in a girl.
Meinecke P, Schaefer E, Engelbrecht R
Eur J Pediatr 1983 Oct;141(1):58-9. doi: 10.1007/BF00445673. PMID: 6641769

Therapy

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.
Gabaldon-Albero A, Cordon L, Sempere A, Pedrola L, Martin-Grau C, Oltra S, Monfort S, Caro-Llopis A, Dominguez-Martinez M, Hernandez-Muela S, Rosello M, Orellana C, Martinez F
Genes (Basel) 2024 Jun 18;15(6) doi: 10.3390/genes15060802. PMID: 38927738Free 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
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
Unusual presentation as an adult onset painful myopathy in a Thai patient with Becker muscular dystrophy.
Pithukpakorn M
J Med Assoc Thai 2011 Feb;94 Suppl 1:S250-2. PMID: 21721455

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
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
Congenital chylothorax in siblings.
Fox GF, Challis D, O'Brien KK, Kelly EN, Ryan G
Acta Paediatr 1998 Sep;87(9):1010-2. doi: 10.1080/080352598750031734. PMID: 9764901
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
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
Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome.
Goonewardena P, Sjöholm AG, Nilsson LA, Pettersson U
Genomics 1988 Feb;2(2):115-8. doi: 10.1016/0888-7543(88)90092-4. PMID: 2900806

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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