Dysmorphology & personalized treatment for Cantu Syndrome

Question 1

What are the clinical manifestations of Cantu syndrome?

Answer 1

• Generalized hypertrichosis
• Coarse facial features
• Macrosomia and macrocephaly
• Deep palmar and plantar creases
• Lower leg edema
• Cardiac anomalies

Question 2

What gene is mutated in Cantu syndrome?

Answer 2

ABCC9 gene (ATP-binding cassette, sub-family C member 9), a gene that encodes for a subunit of a potassium channel. The mutation causes the channel to open when it should be closed.

Question 3

How many Cantu syndrome patients are there internationaly?

Answer 3

75

Question 4

What is the best strategy for identifying a drug for Cantu patients?

Answer 4

Drug repurposing

Question 5

Is there already a drug for Cantu-syndrome?

Answer 5

Yes, glibenclamide. It prevents/reverses Cantu syndrome associated features in zebrafish and mice.

Question 6

Answer 6