We are 5 families who have joined forces to help our beloved children hoping to find a team of researchers who will try to develop a therapy against CNTNAP1.
We know it's a long, difficult road but we will continue to perservere so that we find a cure for our children.
Izabella was born on December 11, 2012 and is from England.
She has two mutations in CNTNAP1. A compound heterozygote for the c.1735+1G>A and c.2344C>T p.(Arg782Ter) mutations.
Isabella was born on October 16, 2016 and from Denmark.
She has compound heterozygotei and has been detected for 2 mutations in CNTNAP1, respectively. c. 1046G> T (p.Gly349Val), which is maternally inherited, and c.1823del (p.Leu608Argfs * 5), which is paternally inherited. Homozygous or compound heterozygous mutations in the gene are associated with hypomyelinating defects both centrally and in the peripheral nervous system.
James was born on January 5, 2018 in the United States (California). He has compound heterozygous positive for the c.377dupA (pAsn126Lysfs*11) pathogenic mutation, which is paternally inherited, and the c.967T>C (p.Cys323Arg), which is maternally inherited, likely pathogenic variant of uncertain clinical significance (VUS) detected on research based testing.
From Delton USA
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