***** WAIT Mail Yannis
SCHEDULED: <2022-04-13 Wed>

***** DONE Mail Yannis
CLOSED: [2022-05-01 Sun 19:50] SCHEDULED: <2022-04-13 Wed>
Pas de google droive
***** TODO VPN ??
**** Solution actuelle
Paul a tout en local (excel)
Jehanne fait des powerpoints et les héberge sur le cloud...

***** WAIT Variant déjà rapporté ?
Mentionné dans Saffari2021 mais je pense que c’est une typo
On ne le retrouve pas dans
Mail envoyé en tout cas

***** DONE Variant déjà rapporté ?
CLOSED: [2022-05-01 Sun 19:52]
Non, NM différente (non canonique)
Cf mail de Saffari

**** WAIT Récupérer résultat Cyril et mère
**** TODO Copie dossier

**** DONE Récupérer résultat Cyril et mère
CLOSED: [2022-05-01 Sun 19:52]
**** DONE Copie dossier
CLOSED: [2022-05-01 Sun 19:52]
*** WAIT ATCD familiaux pour fammile d’Alain Verloes

* BPAN

* TODO BPAN

* Case report

* TODO Case report

- pedigree + familial history
*** Patient 1
  - pregnancy, birth N
  - neonatal: poor suckling
  - langage lay + fine motor difficulties
  - overlapping of left toes, mild hypertonia of lower limbs, mild dysmorphic features with bilateral epicanthus and hooded eyelids.
  - no epilepsy
  - metabolic, ophtalmologic, hearing N
  - MRI : bilateral and symmetric hypersignal of dentate nucleus in T2, without iron deposition
*** Patient 2 = sister
  - pregnancy, birth N
  - language delay, learning difficulties
  - round face, thick hair, short forehead and a right preaurical fistula.
  - hypermetropia and astigmatism
*** Genetics testing
- CGH,FMR1, karyotype normal
- NGS : NM ???? c.697C> T p.(Arg233Cys)
- de novo in the mother
- hemizygous in patient 1, heterozygus in the sistier + mother

* Discussion

*** Genetics testing
- CGH,FMR1, karyotype normal
- NGS : hemizygous (NM_007075.3): c.698G>T ;p.(Arg233Leu)
- de novo
* TODO Discussion
** Variants
   - /in silico/ score : variant (varsome)

[cite:@saffari_quantitative_2021]
- no statistically significative result between male and female

- initially though lethal for male
- 3 recent reviews  [cite:@cong_wdr45_2021]
- [cite:@adang_phenotypic_2020] with a 19 male cohort
  - more profound development delay
  - more seizure in male but not earlier and more refractory epilepsy
  - earlier in male

** 1 femane 38Y in Korea + iron @ryu2015

** 1 female 38Y in Korea + iron @ryu2015

** male @@spiegel2016

** male @spiegel2016

** WDR45 knockout mice -> model for BPAN