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.1940G>A (p.Arg647Gln) mutation inherited from both parent carriers. The patient showed global muscle hypotonia with limited spontaneous movement and decreased deep tendon reflex. The patient also had multiple additional anomalies, including hearing disturbance, supravalvular aortic stenosis, a tethered spinal cord, cryptorchidism, and duplex kidney. At 2 years old, the patient presented with global developmental delay, barely sat with support, and only spoke a single word (NM 006036.4)
| Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
| Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
| Ref : JCI Insight , : , 2024 |
| Abstract : |
| PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
| PubMedID: 39078710 |
| Gene_locus related to this paper: human-PREPL |
| Title : Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders - Kim_2020_J.Clin.Med_9_3724 |
| Author(s) : Kim MJ , Yum MS , Seo GH , Lee Y , Jang HN , Ko TS , Lee BH |
| Ref : J Clin Med , 9 : , 2020 |
| Abstract : |
| PubMedSearch : Kim_2020_J.Clin.Med_9_3724 |
| PubMedID: 33233562 |
| Gene_locus related to this paper: human-PREPL |