• Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=30905397).
  

PubMed=29762696; DOI=10.1093/nar/gky395; PMCID=PMC6125618
Gitte H. Bruun, Jeanne Mari Vejen Bang, Lise L. Christensen, Sabrina Broner, Ulrika S.S. Petersen, Barbara Guerra, Alexander G.B. Gronning, Thomas Koed Doktor, Brage Storstein Andresen;
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Nucleic Acids Res. 46:7938-7952(2018)

PubMed=30905397; DOI=10.1016/j.ajhg.2019.02.009; PMCID=PMC6451698
Elisabetta Morini, Da-Di Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka ...Show all 20 authors... , Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory Robert Wojtkiewicz, Chien-Ping Ko, Michael Edward Talkowski, Ioannis Dragatsis, Susan Ann Slaugenhaupt; Show fewer authors
ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia.
Am. J. Hum. Genet. 104:638-650(2019)