What are some examples of deletion mutations?

1 Answer
Jul 13, 2014

According to numerous websites, there are few of these, mainly because large deletions cause death of the embryo.

Here are three that have small or point deletions:
Hereditary neuropathy with pressure palsies
Smith-Magenis syndrome
Williams-Beuren syndrome

Williams-Beuren syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome number 7.
The deletion occurs at the time of conception. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome number 7.

Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and behavioral problems. Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17.

Hereditary neuropathy with pressure palsies condition causes recurrent episodes of numbness, tingling, and/or loss of muscle function (palsy). Some people experience prolonged disability. This condition is caused by the loss of one copy of the PMP22 gene or alterations within the gene.
This condition is different from the others because it only involves one gene.

Information for the above is from: http://ghr.nlm.nih.gov/