Genetics inheritance

-A genetic condition caused by mutation in ALPL gene which is

responsible for the production of alkaline phosphatase.

-ALPL is needed in mineralization of teeth and bone.

-Mutation of the gene leads to abnormal version of the enzyme, thus

affecting mineralization process.

-Hypophosphatasia (HPP) are inherited in an autosomal recessive

pattern.

-This means that to be affected, a person must have a mutation in both

copies of the responsible gene (ALPL) in each cell.
-Affected people inherit one mutated copy of the gene from each parent, who
is referred to as a carrier.
-When 2 carriers of an autosomal recessive condition have children, each child
has a:

25% (1 in 4) chance to be affected

50% (1 in 2) chance to be an unaffected carrier like each parent
25% chance to be unaffected and not be a carrier.