Alternative name(s) : Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation, Elbracht-Isikay syndrome
Gene_locus : 1
Mutation : 8
Comment
Combined oxidative phosphorylation deficiency-53 (COXPD53) is an autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation
| Title : A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia - Werren_2023_Am.J.Med.Genet.A_191_2446 |
| Author(s) : Werren EA , Srinivasan VM , Gowda VK , Pandey A , Vaish S , Kabbur AR , Nandeesh BN , Srivastava A |
| Ref : American Journal of Medicine Genet A , 191 :2446 , 2023 |
| Abstract : |
| PubMedSearch : Werren_2023_Am.J.Med.Genet.A_191_2446 |
| PubMedID: 37337918 |
| Gene_locus related to this paper: human-cb069 |
| Title : C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation - Lausberg_2021_J.Clin.Invest_131_e143078 |
| Author(s) : Lausberg E , Giesselmann S , Dewulf JP , Wiame E , Holz A , Salvarinova R , van Karnebeek CD , Klemm P , Ohl K , Mull M , Braunschweig T , Weis J , Sommer CJ , Demuth S , Haase C , Stollbrink-Peschgens C , Debray FG , Libioulle C , Choukair D , Oommen PT , Borkhardt A , Surowy H , Wieczorek D , Wagner N , Meyer R , Eggermann T , Begemann M , van Schaftingen E , Hausler M , Tenbrock K , van den Heuvel L , Elbracht M , Kurth I , Kraft F |
| Ref : J Clinical Investigation , 131 : , 2021 |
| Abstract : |
| PubMedSearch : Lausberg_2021_J.Clin.Invest_131_e143078 |
| PubMedID: 33945503 |
| Gene_locus related to this paper: human-cb069 |