Zellweger Syndrome (ZW)

Question 1

What are the symptoms of Zellweger Syndrome (ZW)?

Answer 1

Manifest early in life:
Weak muscle tone
Seizures
Liver cysts
Vision and hearing loss
Cataracts
Glaucoma
Facial deformities
Severe central nervous system issues
Issues with the liver, heart, and kidneys

Question 2

What genes are involved in Zellweger Syndrome (ZW)?

Answer 2

At least 12 mutated genes

PEX1 gene (70% of affected individuals have this mutated gene)

Question 3

What is the inheritance pattern for Zellweger Syndrome (ZW)?

Answer 3

Autosomal Recessive

Question 4

What is is the phenotype for the heterozygous in Zellweger Syndrome (ZW)?

Answer 4

One variant of PEX6 is associated with heterozygous manifestations of ZW

Most are asymptomatic carriers