X-linked dominant inheritance: Difference between revisions

Revision as of 12:04, 27 January 2018

Revision as of 12:07, 27 January 2018

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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==

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*Most cases of [[Alport syndrome]]<ref name=pmid14514738>{{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=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 [[porphyria]]<ref name=pmid24131146>{{cite journal |doi=10.1111/ced.12202 |pmid=24131146 |title=X-linked dominant protoporphyria: A new porphyria |journal=Clinical and Experimental Dermatology |volume=39 |issue=1 |pages=35–7 |year=2014 |last1=Seager |first1=M. J |last2=Whatley |first2=S. D |last3=Anstey |first3=A. V |last4=Millard |first4=T. P }}</ref>