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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
A critical appraisal of X-linked bipolar illness. Evidence for the assumed mode of inheritance is lacking.
Hebebrand J
Br J Psychiatry 1992 Jan;160:7-11. doi: 10.1192/bjp.160.1.7. PMID: 1544014

Diagnosis

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
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
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

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
Agenesis of the dorsal pancreas: a rare cause of insulin-dependent diabetes without abdominal pain: Case report.
Liang K, Ou X, Huang X, Lan Q
Medicine (Baltimore) 2018 Mar;97(9):e0046. doi: 10.1097/MD.0000000000010046. PMID: 29489657Free 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
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

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
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
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
Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.
Hahn AF
Brain Pathol 1993 Apr;3(2):147-55. doi: 10.1111/j.1750-3639.1993.tb00739.x. PMID: 8293176

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