Which genetic disorder is caused by the ELN deletion?

The genetic disorder that results from the deletion of the ELN gene is Williams syndrome. This condition is characterized by various distinctive features, including cardiovascular issues, developmental delays, and a unique personality profile characterized by excessive sociability and friendliness.

Williams syndrome specifically arises from a deletion of genetic material on chromosome 7, which includes the elastin gene (ELN). The absence of this gene disrupts the proper development of blood vessels and connective tissues, leading to the characteristic medical and developmental challenges associated with this syndrome. Individuals with Williams syndrome often exhibit heart problems, particularly supravalvular aortic stenosis, and they display unique cognitive profiles, including strengths in verbal abilities and weaknesses in spatial skills.

In contrast, the other genetic disorders listed have different genetic causes: Down syndrome is typically caused by an extra copy of chromosome 21, Marfan syndrome is due to mutations in the FBN1 gene that affects connective tissue, and Turner syndrome arises from a partial or complete absence of one of the two X chromosomes in females. These distinctions are crucial for understanding the specific genetic mechanisms behind each of these conditions.