Autosomal dominant inheritance

Autosomal dominant inheritance

When a parent transmits a disease to his or her children the disease may be an autosomal dominant disorder. The cause can be found in genes. An abnormal gene on one of the autosomal (or non-sex) chromosomes dominates over the other 'normal' gene. One needs only one abnormal or mutated gene to be affected by this type of genetic disorder.  A person with an autosomal dominant disorder has a 50 % chance of having an affected child with one mutated gene (dominant gene) and a 50 % chance of having an unaffected child with two normal genes. Examples of autosomal dominant disorders:

Last modified
8 March 2020
Symptom

Autosomaal dominante mentale retardatie-50

The NAA 15 gene is located on chromosome nr 4. A mutation causing developmental and intellectual disabilities can be inherited from one of the parents.

Autosomal dominant inheritance in TCS

Treacher Collins Syndrome has a variable degree of expression. Often Treacher Collins Syndrome is due to a so called new mutation. To distinguish familial occurence...

Cleidocranial Dysplasia in family

CCD is an autosomal dominant condition. This means that family members can be affected. Each affected family member will have the same mutation (change in...
Rare Condition

Treacher Collins Syndrome

Treacher Collins Syndrome is a genetic disorder characterized by hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of...

Cleidocranial Dysplasia or Dysostosis

The most common features of  cleidocranial dysplasia/ dysostosis are among others:

  • patency of the anterior fontanelle,
  • an inverted pear-shaped skull,
  • hypertelorism (wide-spaced eyes),
  • general backward placement...

Autosomal dominant mental retardation-50

Autosomal dominant mental retardation-50 is associated with NAA15 gene mutations in large cohorts of DNA samples of people with mild to severe developmental delay and/or...