Inheritance and Genetics of Angelman syndrome
Angelman syndrome: Genetics Information
Genetics of Angelman syndrome:
The genetic basis of AS is very complex, but the majority of cases are due to a deletion of segment 15q11 -- q13 on the maternally derived chromosome 15. When this same region is missing from the paternally derived chromosome, an entirely different disorder, Prader -- Willi syndrome, results. This phenomenon --- when the expression of genetic material depends on whether it has been inherited from the mother or the father --- is termed genomic imprinting.
The ubiquitin ligase gene (UBE3A) is found in the AS chromosomal region. It codes for an enzyme that is a key part of a cellular protein degradation system. AS is thought to occur when mutations in UBE3A disrupt protein break down during brain development.
(Source: Genes and Disease by the National Center for Biotechnology)
About inheritance and genetics:
Inheritance of Angelman syndrome refers to whether the condition is inherited
from your parents or "runs" in families.
The level of inheritance of a condition depends
on how important genetics are to the disease.
Strongly genetic diseases are usually inherited,
partially genetic diseases are sometimes inherited,
and non-genetic diseases are not inherited.
For general information, see Introduction to Genetics.