Smith-Lemli-Opitz syndrome is caused by amutation in the DHCR7 gene. This disease affects the production of cholesterol in the body. Growth and development of individuals are stunted with severe medical complications.

Medical Condition

• Learning & Intellectual disability
• Behavioral problems
• Small head size (includes several other physical abnormalities)
• Hypotonia (weak muscle)
• Slow growth
• Malformation of vital organs
• Pulmonary Hypertension

Genetic Changes

• The DHCR7 gene provides the code to produce the enzyme 7-dehydrocholestrol reductase.
• 7-dehydrocholestrol reductase is the final precursor in the production of cholesterol
• Mutation in DHCR7 affects the production of several hormones and digestive acids.
• As cholesterol are the structural component of cell membranes and aprotective component of the nerve cells.

Treatment

No specific treatment as it is a genetic disorder with high morbidity. Bone Marrow transplantation

• Blood transfusion
• Enzyme replacement therapy
• Gene therapy

Solution

• Genetic screening can identify single gene disorders
• Early prognosis can prevent such diseases
• Remedial & personalized medicine can change the outcome
• Doctors can suggest alternatives for couples planning pregnancy

More information

At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.