X-linked dominant inheritance: Difference between revisions

Revision as of 13:37, 24 January 2018

Revision as of 12:02, 27 January 2018

Line 5:

X-linked dominant traits do not necessarily affect males more than females (unlike [[X-linked recessive]] traits). The exact pattern of inheritance varies, depending on whether the father or the mother has the trait of interest. All fathers that are affected by an X-linked dominant disorder, will have affected daughters, but not affected sons. However, if the mother is also affected then sons will have a chance of being affected, depending on whether a dominant or recessive X chromosome is passed on. When the son is affected the mother will always be affected.

Some scholars have suggested discontinuing the terms dominant and recessive when referring to X-linked inheritance due to the multiple mechanisms that can result in the expression of X-linked traits in females, which include cell autonomous expression, skewed X-inactivation, clonal expansion, and somatic mosaicism.<ref name=pmid15316978>{{cite journal |doi=10.1002/ajmg.a.30123|pmid=15316978|title=Inheritance of most X-linked traits is not dominant or recessive, just X-linked|journal=American Journal of Medical Genetics|volume=129A|issue=2|pages=136|year=2004|last1=Dobyns|first1=William B.|last2=Filauro|first2=Allison|last3=Tomson|first3=Brett N.|last4=Chan|first4=April S.|last5=Ho|first5=Allen W.|last6=Ting|first6=Nicholas T.|last7=Oosterwijk|first7=Jan C.|last8=Ober|first8=Carole}}</ref>

==Genetics==

As the X chromosome is one of the [[sex chromosome]]s (the other being the [[Y chromosome]]), X-linked

inheritance is determined by the [[sex]] of the parent carrying a specific gene and can often seem complex. This is due to the fact that, typically, [[female]]s have two copies of the X-chromosome, while [[male]]s have only one copy. The difference between [[Dominance (genetics)#Dominant trait|dominant]] and [[Dominance (genetics)#Recessive|recessive]] inheritance patterns also plays a role in determining the chances of a child inheriting an X-linked disorder from their parentage.{{fact}}

Males can only get an X chromosome from their mother whilst females get an X chromosome from both parents. As a result, females tend to show higher prevalence of X-linked dominant disorders because they have more of a chance to inherit a faulty X chromosome.{{fact}}

===Inheritance===

Line 43:

*[[Vitamin D]] resistant [[rickets]]: [[X-linked hypophosphatemia]]

*[[Rett syndrome]] (95% of cases are due to sporadic mutations)

*Most cases of [[Alport syndrome]]<ref pmid=14514738>{{cite journal |doi=10.1097/01.ASN.0000090034.71205.74 }}</ref>

*Most cases of [[Alport syndrome]]<ref>{{cite journal |doi=10.1097/01.ASN.0000090034.71205.74|pmid=14514738|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|year=2003|last1=Jais|first1=J. P.|last2=Knebelmann|first2=B|last3=Giatras|first3=I|last4=De Marchi|first4=M|last5=Rizzoni|first5=G|last6=Renieri|first6=A|last7=Weber|first7=M|last8=Gross|first8=O|last9=Netzer|first9=K. O.|last10=Flinter|first10=F|last11=Pirson|first11=Y|last12=Dahan|first12=K|last13=Wieslander|first13=J|last14=Persson|first14=U|last15=Tryggvason|first15=K|last16=Martin|first16=P|last17=Hertz|first17=J. M.|last18=Schröder|first18=C|last19=Sanak|first19=M|last20=Carvalho|first20=M. F.|last21=Saus|first21=J|last22=Antignac|first22=C|last23=Smeets|first23=H|last24=Gubler|first24=M. C.}}</ref>

*[[Incontinentia pigmenti]]<ref>http://dermnetnz.org/systemic/incontinentia-pigmenti.html{{full citation needed|date=July 2016}}</ref>

*[[Giuffrè–Tsukahara syndrome]]<ref name="Giuffrè"pmid20635354>{{cite journal |doi=10.1002/ajmg.a.33505|pmid=20635354|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|year=2010|last1=Dalal|first1=Ashwin B.|last2=Sarkar|first2=Anujit|last3=Priya|first3=T. Padma|last4=Nandineni|first4=Madhusudan R.}}</ref>

*[[Goltz syndrome]]

*[[X-linked dominant protoporphyria]]<ref>[[Porphyria#Subtypesporphyria]]</ref name=pmid24131146><ref>https:{{cite journal |doi=10.1111//wwwced.ncbi.nlm.nih.gov/pubmed/2413114612202 }}</ref>

*[[Fragile X syndrome]]

Line 54:

*[[Rett syndrome]]

*[[Sex linkage]]

*[[Incontinentia pigmenti]]<ref>{{EMedicine|article|1114205|Incontinentia [http:Pigmenti}}<//emedicine.medscape.com/article/1114205-overview]ref>

*[[X-linked recessive inheritance]]