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 :
c.1528C>T p.(Arg510Ter). a 7-year-old female patient with biallelic mutations in PREPL (c.1528C>T in one allele and whole gene deletion in the other) with early growth impairment in infancy. GH deficiency was confirmed at 20 months of life.
| Title : Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency - Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205 |
| Author(s) : Sayol-Torres L , Valenzuela MI , Tomasini R , Fernandez-Alvarez P , Clemente M , Yeste D |
| Ref : J Clin Res Pediatr Endocrinol , 15 :205 , 2023 |
| Abstract : |
| PubMedSearch : Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205 |
| PubMedID: 34693706 |
| Gene_locus related to this paper: human-PREPL |
| Title : A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings - Shchagina_2020_Genes.(Basel)_11_821 |
| Author(s) : Shchagina O , Bessonova L , Bychkov I , Beskorovainaya T , Poliakov A |
| Ref : Genes (Basel) , 11 :821 , 2020 |
| Abstract : |
| PubMedSearch : Shchagina_2020_Genes.(Basel)_11_821 |
| PubMedID: 32707643 |
| Gene_locus related to this paper: human-PREPL |