BPAN = first X-linked, WDR45 and distinc phenotype

BPAN = X-linked, WDR45 and distinc phenotype. No X-linked phenotype !

** Genetic basis in Haack2012

** X-linked ? [cite:@haack2012]

* References
- [ ] [cite:@Aring_2021] review + physiopathology of WDR45 deficit

** Mutations :
- missense, truncation
- 23 subjects in [cite:@hayflick2013]
- 5 subjetcs in [cite:@saitsu2013]
** basis, physiopathology in[cite:@aring2021]
- NB: for NBIA, only 2 genes have been associated with iron metabolism (CP ceruloplasmin, CTL ferritin light chain) [cite:@hayflick2018] -> TODO add picture
- WDR45 = one of the 4 human autolog of yeast Atg18 = aurophagy regulator -> deficiency results in autophagic flux (dynamic part of autophagy) ??
- Model [cite:@aring2021] :

  with knock-out

* References
- [ ] [cite:@Aring_2021] physiopathology model for WDR45 deficit
- [ ] [cite:@saitsu2013] mutations in WDR45 TODO data

}
@article{saitsu2013,
  title={De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood},
  author={Saitsu, Hirotomo and Nishimura, Taki and Muramatsu, Kazuhiro and Kodera, Hirofumi and Kumada, Satoko and Sugai, Kenji and Kasai-Yoshida, Emi and Sawaura, Noriko and Nishida, Hiroya and Hoshino, AI and others},
  journal={Nature genetics},
  volume={45},
  number={4},
  pages={445--449},
  year={2013},
  publisher={Nature Publishing Group}