X-linked dominant inheritance: Difference between revisions

Content deleted Content added
No edit summary
Tags: Mobile edit Mobile web edit
m Cleaned up using AutoEd
Line 14:
===Inheritance===
In X-linked dominant inheritance, when the mother alone is the [[genetic carrier|carrier]] of a mutated, or defective gene associated with a disease or disorder; she herself will have the disorder. Her children will inherit the disorder as follows:
* Of her daughters and sons: 50% will have the disorder, 50% will be completely unaffected. Children of either sex have an even chance of receiving either of their mother's two X chromosomes, one of which contains the defective gene in question.
 
*Of her daughters and sons: 50% will have the disorder, 50% will be completely unaffected. Children of either sex have an even chance of receiving either of their mother's two X chromosomes, one of which contains the defective gene in question.
 
When the father alone is the carrier of a defective gene associated with a disease or disorder, he too will have the disorder. His children will inherit the disorder as follows:
* Of his daughters: 100% will have the disorder, since all of his daughters will receive one copy of his single X chromosome.
 
* Of his daughterssons: 100%none will have the disorder,; sincesons alldo of his daughters willnot receive onean copyX ofchromosome hisfrom singletheir X chromosomefather.
*Of his sons: none will have the disorder; sons do not receive an X chromosome from their father.
 
If both parents were carriers of a defective gene associated with a disease or disorder, they would both have the disorder. Their children would inherit the disorder as follows:
* Of their daughters: 100% will have the disorder, since all of the daughters will receive a copy of their father's X chromosome.
 
* Of theirthe daughterssons: 10050% will have the disorder, since50% allwill ofbe thecompletely daughtersunaffected. willSons receivehave an equal chance of areceiving copyeither of their fathermother's X chromosomechromosomes.
*Of the sons: 50% will have the disorder, 50% will be completely unaffected. Sons have an equal chance of receiving either of their mother's X chromosomes.
 
In such a case, where both parents carry and thus are affected by an X-linked dominant disorder, the chance of a daughter receiving two copies of the X chromosome with the defective gene is 50%, since daughters receive one copy of the X chromosome from both parents. Were this to occur with an X-linked dominant disorder, that daughter would likely experience a more severe form.
Line 34 ⟶ 31:
 
==List of dominant X-linked diseases==
* [[Vitamin D]] resistant [[rickets]]: [[X-linked hypophosphatemia]]
* [[Rett syndrome]] (95% of cases are due to sporadic mutations)
* Most cases of [[Alport syndrome]]<ref name=pmid14514738>{{cite journal | vauthors = Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC | display-authors = 6 | title = X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study | journal = Journal of the American Society of Nephrology | volume = 14 | issue = 10 | pages = 2603–10 | date = October 2003 | pmid = 14514738 | doi = 10.1097/01.ASN.0000090034.71205.74 | doi-access = free }}</ref>
* [[Incontinentia pigmenti]]<ref>{{cite web | url = http://dermnetnz.org/systemic/incontinentia-pigmenti.html | title = Incontinentia pigmenti | first = Vanessa | last = Ngan | name-list-style = vanc | publisher = DermNet NZ | date = 2005 }}</ref><ref>{{EMedicine|article|1114205|Incontinentia Pigmenti}}</ref>
* [[Giuffrè–Tsukahara syndrome]]<ref name=pmid20635354>{{cite journal | vauthors = Dalal AB, Sarkar A, Priya TP, Nandineni MR | title = Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review | journal = American Journal of Medical Genetics. Part A | volume = 152A | issue = 8 | pages = 2057–60 | date = August 2010 | pmid = 20635354 | doi = 10.1002/ajmg.a.33505 }}</ref>
* [[Goltz syndrome]]
* X-linked dominant [[porphyria]]<ref name=pmid24131146>{{cite journal | vauthors = Seager MJ, Whatley SD, Anstey AV, Millard TP | title = X-linked dominant protoporphyria: a new porphyria | journal = Clinical and Experimental Dermatology | volume = 39 | issue = 1 | pages = 35–7 | date = January 2014 | pmid = 24131146 | doi = 10.1111/ced.12202 }}</ref>
* [[Aicardi Syndrome]]
 
== See also ==
* [[Sex linkage]]
* [[X-linked recessive inheritance]]
 
== References ==