Gene Locus : human-PREPL
Mode of mutation : Natural mutant
Disease :
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 : Glu206GlyfsX22(c.616 + 1G > T) in a 14-year-old Chinese girl with PREPL deficiency. Sequencing of the RT-PCR products from the patient's blood sample revealed that the c.616 + 1G > T variant disrupted normal splicing in intron 4 leading to an aberrant inclusion of 43 nucleotides in intron, a frameshift, and premature termination codon. Severe neonatal hypotonia, growth impairment and cognitive problems, absence of the ovaries, hypoplasia of the uterus, microcephaly and a short neck
| Title : PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus - Yang_2020_Front.Genet_11_198 |
| Author(s) : Yang Q , Hua R , Qian J , Yi S , Shen F , Zhang Q , Li M , Luo J , Fan X |
| Ref : Front Genet , 11 :198 , 2020 |
| Abstract : Yang_2020_Front.Genet_11_198 |
| ESTHER : Yang_2020_Front.Genet_11_198 |
| PubMedSearch : Yang_2020_Front.Genet_11_198 |
| PubMedID: 32218803 |
| Gene_locus related to this paper: human-PREPL |