| 概要 |
Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive multisystem syndrome characterized by developmental delay, early-onset epilepsy, and hypotonia. Some patients display cardiac arrhythmias and recurrent infections. It has been reported that mutations in CRELD1 cause this syndrome. CRELD1 is a ubiquitously expressed transmembrane protein that is critically required for embryonic heart development. CRELD1 has additionally been shown to have a role in the immune system. During development, CRELD1 displays prominent expression in the developing brain, heart, branchial arches, and limb buds, and in adult tissues, there is high expression in the brain, heart, and skeletal muscle, suggesting other potentially important functional roles.
|
|---|
| 著者 |
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W, Khokha MK, Bonnemann CG, Lucas CL, Lakhani SA |
|---|
