Periventricular heterotopia

Question 1

What are the symptoms of Periventricular heterotopia?

Answer 1

Seizures in teenage years
Heart problems
Congenital strabismus–> disease of muscles of the eyes working improperly
Shortened fingers or toes
Hyperflexible joints
Pulmonary disease
Elastic skin
Clumps of neurons near the brain’s ventricles
Microcephaly (seen in severe Periventricular heterotopia)

Question 2

What genes are involved in Periventricular heterotopia?

Answer 2

FLNA gene (X-linked)

ARFGEF2 gene (autosomal recessive)

Few cases associated with chromosome 5

Question 3

What are the inheritance pattern for Periventricular heterotopia?

Answer 3

Two patterns:
X-linked dominant

Autosomal recessive

Question 4

What is the phenotype for the heterozygous in Periventricular heterotopia (both inheritance patterns)? If homozygous dominant, is it lethal?

Answer 4

(X-linked): More severe in males; can be lethal for homozygous females if affected {male} parent lives to reproduction age

(Autosomal recessive): heterozygous is carrier and not display symptoms