What is the pattern of inheritance for Angelman syndrome?

Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy . These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.

What is imprinted in Angelman syndrome?

Genomic imprinting and Angelman syndrome. Genomic imprinting refers to a process whereby the maternal copy of a gene can be marked or “imprinted” differently than the paternal copy of the same gene (Reik and Walter, 2001).

Is Angelman syndrome recessive or dominant?

Angelman syndrome(AS) In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

What is the genetic cause of Angelman syndrome?

Angelman syndrome is a rare neurogenetic disease caused by the loss of function of the maternal copy of the UBE3A gene. The disease is characterized by developmental delays, intellectual and physical disabilities, and speech impairment. There are several genetic mechanisms that may inactivate or delete the maternal copy of the UBE3A gene.

Who are the members of the Angelman Syndrome Foundation?

NORD gratefully acknowledges Charles Williams, MD, Emeritus Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine; member of the Angelman Syndrome Foundation Scientific Advisory Committee, for assistance in the preparation of this report.

How does imprinting inheritance work in Angelman syndrome?

Imprinting inheritance: UBE3A mutations and Imprinting Center deletions can exhibit imprinting inheritance wherein a carrier father can pass on the genetic defect to his children without it causing any problems, but whenever a female passes this same genetic defect on to her children, regardless of the sex of her child, that child will have AS.

Can a person with Angelman syndrome have puberty?

Both boys and girls with Angelman Syndrome go through a normal puberty and develop normal secondary sexual characteristics. Some reports suggest that puberty may be slightly later than normal in some individuals. All aspects of a teenager’s sexual health and emotional development need to be considered.