U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

X-linked dominant inheritance

MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Synonym: X-linked dominant
 
HPO: HP:0001423
Orphanet: ORPHA409934

Definition

A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • X-linked dominant inheritance

Professional guidelines

PubMed

Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.
Qiu G, Liu C, Zhou J, Liu P, Wang J, Jiang H, Hou Z, Zhao Y, Sun K, Li-Ling J
Genet Test Mol Biomarkers 2010 Jun;14(3):385-91. doi: 10.1089/gtmb.2009.0175. PMID: 20578943
Evaluation in patients with Alport syndrome of knowledge of the disease and attitudes toward prenatal diagnosis.
Levy M, Pirson Y, Simon P, Boudailliez B, Nivet H, Rancé N, Moynot A, Broyer M, Grünfeld JP
Clin Nephrol 1994 Oct;42(4):211-20. PMID: 7834912

Recent clinical studies

Etiology

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia.
Castellano-Martinez A, Acuñas-Soto S, Roldan-Cano V, Rodriguez-Gonzalez M
J Clin Res Pediatr Endocrinol 2022 Aug 25;14(3):344-349. Epub 2021 Mar 29 doi: 10.4274/jcrpe.galenos.2021.2020.0287. PMID: 33783172Free PMC Article
NBIA Syndromes: A Step Forward from the Previous Knowledge.
Svetel M, Dragašević N, Petrović I, Novaković I, Tomić A, Kresojević N, Stanković I, Kostić V
Neurol India 2021 Sep-Oct;69(5):1380-1388. doi: 10.4103/0028-3886.329603. PMID: 34747818
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.
Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA
Neurology 2011 Feb 1;76(5):461-6. doi: 10.1212/WNL.0b013e31820a0ceb. PMID: 21282593
X-linked dominant control of F-cells in normal adult life: characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome.
Miyoshi K, Kaneto Y, Kawai H, Ohchi H, Niki S, Hasegawa K, Shirakami A, Yamano T
Blood 1988 Dec;72(6):1854-60. PMID: 2461753

Diagnosis

NBIA Syndromes: A Step Forward from the Previous Knowledge.
Svetel M, Dragašević N, Petrović I, Novaković I, Tomić A, Kresojević N, Stanković I, Kostić V
Neurol India 2021 Sep-Oct;69(5):1380-1388. doi: 10.4103/0028-3886.329603. PMID: 34747818
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K
Genes (Basel) 2021 Mar 25;12(4) doi: 10.3390/genes12040468. PMID: 33805950Free PMC Article
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Orofaciodigital syndrome.
Naiboglu B, Oysu C, Gokceer T
Ear Nose Throat J 2012 Jan;91(1):E8-9. doi: 10.1177/014556131209100115. PMID: 22278878
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732

Therapy

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia.
Castellano-Martinez A, Acuñas-Soto S, Roldan-Cano V, Rodriguez-Gonzalez M
J Clin Res Pediatr Endocrinol 2022 Aug 25;14(3):344-349. Epub 2021 Mar 29 doi: 10.4274/jcrpe.galenos.2021.2020.0287. PMID: 33783172Free PMC Article
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
Hamici S, Bastaki F, Khalifa M
Eur J Med Genet 2017 Oct;60(10):541-547. Epub 2017 Aug 1 doi: 10.1016/j.ejmg.2017.07.014. PMID: 28778787
A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome.
Christianto A, Katayama S, Kameshita I, Inazu T
Clin Chim Acta 2016 Aug 1;459:132-136. Epub 2016 Jun 2 doi: 10.1016/j.cca.2016.06.003. PMID: 27265524
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859

Prognosis

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Elrharchi S, Riahi Z, Salime S, Charoute H, Elkhattabi L, Boulouiz R, Kabine M, Bonnet C, Petit C, Barakat A
Hum Hered 2020;85(1):35-39. Epub 2021 Jan 22 doi: 10.1159/000512712. PMID: 33486474
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.
Wang H, Bing D, Li J, Xie L, Xiong F, Lan L, Wang D, Guan J, Wang Q
Neural Plast 2020;2020:5625768. Epub 2020 Jul 1 doi: 10.1155/2020/5625768. PMID: 32684920Free PMC Article
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
Mata IF, Jang Y, Kim CH, Hanna DS, Dorschner MO, Samii A, Agarwal P, Roberts JW, Klepitskaya O, Shprecher DR, Chung KA, Factor SA, Espay AJ, Revilla FJ, Higgins DS, Litvan I, Leverenz JB, Yearout D, Inca-Martinez M, Martinez E, Thompson TR, Cholerton BA, Hu SC, Edwards KL, Kim KS, Zabetian CP
Mol Neurodegener 2015 Sep 24;10:50. doi: 10.1186/s13024-015-0045-4. PMID: 26399558Free PMC Article
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732
Assessing the role of X-linked inheritance in bipolar-related major affective disorder.
Risch N, Baron M, Mendlewicz J
J Psychiatr Res 1986;20(4):275-88. doi: 10.1016/0022-3956(86)90031-2. PMID: 3806423

Clinical prediction guides

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
Mata IF, Jang Y, Kim CH, Hanna DS, Dorschner MO, Samii A, Agarwal P, Roberts JW, Klepitskaya O, Shprecher DR, Chung KA, Factor SA, Espay AJ, Revilla FJ, Higgins DS, Litvan I, Leverenz JB, Yearout D, Inca-Martinez M, Martinez E, Thompson TR, Cholerton BA, Hu SC, Edwards KL, Kim KS, Zabetian CP
Mol Neurodegener 2015 Sep 24;10:50. doi: 10.1186/s13024-015-0045-4. PMID: 26399558Free PMC Article
Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C
Am J Med Genet A 2004 Aug 30;129A(2):136-43. doi: 10.1002/ajmg.a.30123. PMID: 15316978
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732
Re-interpretation of the evidence for X-linked dominant inheritance of juvenile periodontitis.
Hart TC, Marazita ML, Schenkein HA, Diehl SR
J Periodontol 1992 Mar;63(3):169-73. doi: 10.1902/jop.1992.63.3.169. PMID: 1593411

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...