Article
Familial dysautonomia.
Clinical autonomic research : official journal of the Clinical Autonomic Research Society - 1 Jun 2023
González-Duarte Alejandra, Cotrina-Vidal Maria, Kaufmann Horacio, Norcliffe-Kaufmann Lucy
Abstract excerpt
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry. The mutation yield a tissue-specific skipping of exon 20 and a loss of function of the...
Topics
- Infant, Newborn
- Humans
- Dysautonomia, Familial
- Neurons
- Mutation