This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Autosomal dominant inheritance

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Autosomal dominant inheritance is characterised by the disease being expressed in the heterozygote and the homozygote. On average, the trait is only inherited in 50% of offspring, there being an equal frequency and severity in each sex for a given condition. There is often a varible expression in the time of onset of autosomal dominant conditions.

At different ends of a spectrum, an autosomal dominant gene may not manifest in any way clinically - non-penetrance - or, it may totally preclude reproduction, as for example, in Apert's syndrome.

Autosomal dominant traits generally tend to be less severe than autosomal recessive traits. In those autosomal dominant traits appropriately investigated, there tends to be defects of structural, carrier or receptor proteins. In addition, stuctural skeletal problems appear are frequently autosomal dominant.

There are approximately 2200 known autosomal dominant traits, the most common being:

disorder frequency / 1000 births

  • dominant otosclerosis 3
  • familial hypercholesterolaemia 2
  • adult polycystic kidney disease 1
  • multiple exostoses 0.5
  • Huntington's disease 0.5
  • neurofibromatosis 0.4
  • myotonic dystrophy 0.2
  • congenital spherocytosis 0.2
  • polyposis coli 0.1
  • dominant blindness 0.1
  • dominant congenital deafness 0.1

Reference:

  • Essential Medical Genetics, J.M. Connor & M.A. Ferguson-Smith, Blackwell's Publishers.

Related pages

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.