Gene Locus : human-PREPL
Mode of mutation : Natural mutant
Disease : Myasthenic syndrome, congenital, 22\; CMS22
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : In a male patient (IPD3) with congenital myasthenic syndrome-22 (CMS22\; 616224), Regal et al. (2018) detected compound heterozygosity for a deletion and a nonsense mutation in the PREPl gene. The nonsense mutation was a c.1604T-G transversion (c.1604T-G, NM_001171603.1) in exon 10 that resulted in a leu535-to-ter (L535X) substitution.
| Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109 |
| Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM |
| Ref : Genet Med , 20 :109 , 2018 |
| Abstract : Regal_2018_Genet.Med_20_109 |
| ESTHER : Regal_2018_Genet.Med_20_109 |
| PubMedSearch : Regal_2018_Genet.Med_20_109 |
| PubMedID: 28726805 |
| Gene_locus related to this paper: human-PREPL |