Long QT syndrome 1
| Disorder | |
|---|---|
| OMIM #: | #192500 (Click to access OMIM database) |
| Disorder: | Long QT syndrome 1 |
| Also known as: | Ward-Romano syndrome Romano-Ward syndrome LQT1 |
| Clinical | |
| Phenotype: | prolonged QT interval, syncope, ventricular fibrillation, torsade de pointes, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | KCNQ1 |
| Base Change: | C>T, at nucleotide 671 |
| Amino Acid Change: | thr 224 --> met |
| Last updated: | 2022-11-05 |
| References |
|---|
| Lynch MT, Maloney KA, Pollin TI, Streeten EA, Xu H; Regeneron Genetics Center, Shuldiner AR, Van Hout CV, Gonzaga-Jauregui C, Mitchell BD. (2021) The burden of pathogenic variants in clinically actionable genes in a founder population. Am J Med Genet A Aug 31. doi: 10.1002/ajmg.a.62472. PubMed ID: 34467620 |
| Streeten EA, See VY, Jeng LBJ, Maloney KA, Lynch M, Glazer AM, Yang T, Roden D, Pollin TI, Daue M, Ryan KA, Van Hout C, Gosalia N, Gonzaga-Jauregui C, Economides A, Perry JA, O'Connell J, Beitelshees A, Palmer K, Mitchell BD, Shuldiner AR. (2020) KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine. Circ Genom Precis Med Dec;13(6):e003133. PubMed ID: 33141630 |
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