The 22q11.2 deletion syndrome can affect over 46 protein-coding genes on chromosome 22. The loss of TBX1 is thought to be responsible for a large part of the 22q11.2DS phenotype, as it is involved in the development of the heart, thymus, thyroid and parathyroid glands, and some craniofacial features.
22q11 deletion syndrome
The 22q11.2 deletion syndrome can result in the loss of up to 46 protein-coding genes, which have wide-spread effects on human development. The loss of TBX1 is thought to be responsible for a large proportion of the 22q11.2DS phenotype, due its role in the development of the heart, thymus, thyroid, parathyroids and more.