Vi er 5 familier, der har fundet sammen i kampen om at hjælpe vores elskede børn, samt få et stort gennembrud inden for genterapi. Vi har fundet et team af forskere, der vil forsøge at udvikle en genterapi mod CNTNAP1.
Vi ved, at det er en lang og vanskelig vej, men vi vil fortsætte med at kæmpe, indtil vi finder en kur for vores børn.
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
Copyright © All Rights Reserved