PMID- 32248411
OWN - NLM
STAT- MEDLINE
DCOM- 20210526
LR  - 20210526
IS  - 1559-1166 (Electronic)
IS  - 0895-8696 (Linking)
VI  - 70
IP  - 8
DP  - 2020 Aug
TI  - Overlapping Diseases in a Brazilian Subject with Brain Calcification Linked to 
      Novel Phenotypes.
PG  - 1255-1256
LID - 10.1007/s12031-020-01534-7 [doi]
AB  - Primary familial brain calcification (PFBC) is a well-known genetic condition 
      that has recently had a surge of autosomal recessive cases. We recently reported 
      a case of autosomal recessive PFBC on a 54-year-old Brazilian patient with a 
      novel homozygous variant on MYORG. Interestingly, that patient also had a series 
      of uncommon signs and symptoms, including Hashimoto's thyroiditis, 
      polyneuropathy, optic nerve head drusen (ONHD), and persistent anemia. We chose 
      to perform whole exome sequencing (WES) to possibly detect other unknown genetic 
      conditions that could explain the extra-neurological findings reported. WES 
      confirmed the presence of the MYORG variant previously reported by us, and 
      determined the presence of a heterozygous nonsense variant on HBB (c.118C > T, 
      p.Q40*), defining a diagnosis of beta-thalassemia. Based on literature review, 
      the new WES finding explains the persistent anemia and polyneuropathy shown by 
      the patient, while still leaving the ONHD and autoimmune thyroiditis without a 
      clear genetic link. This way, we propose that these novel clinical findings could 
      be linked to MYORG, but still encourage further studies to evaluate this 
      possibility.
FAU - Ferreira, Laura D
AU  - Ferreira LD
AUID- ORCID: 0000-0003-3150-8731
AD  - Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil.
FAU - de Oliveira, Joao Ricardo M
AU  - de Oliveira JRM
AUID- ORCID: 0000-0001-7474-9266
AD  - Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil. 
      joao.ricardo@ufpe.br.
AD  - Neuropsychiatry Department, Universidade Federal de Pernambuco, Av. Professor 
      Moraes Rego, 1235, Cidade Universitaria, Recife, 50670-901, Brazil. 
      joao.ricardo@ufpe.br.
LA  - eng
PT  - Comment
PT  - Journal Article
DEP - 20200404
PL  - United States
TA  - J Mol Neurosci
JT  - Journal of molecular neuroscience : MN
JID - 9002991
RN  - EC 3.2.1.- (Glycoside Hydrolases)
SB  - IM
CON - Brain. 2019 Sep 1;142(9):e51. PMID: 31332435
MH  - Brain
MH  - *Brain Diseases
MH  - Brazil
MH  - Glycoside Hydrolases/genetics
MH  - Humans
MH  - Middle Aged
MH  - Mutation
MH  - Pedigree
MH  - Phenotype
OTO - NOTNLM
OT  - Drusen
OT  - MYORG
OT  - Primary familial brain calcification
OT  - Thalassemia
OT  - Whole exome sequencing
EDAT- 2020/04/06 06:00
MHDA- 2021/05/27 06:00
CRDT- 2020/04/06 06:00
PHST- 2020/02/06 00:00 [received]
PHST- 2020/03/12 00:00 [accepted]
PHST- 2020/04/06 06:00 [pubmed]
PHST- 2021/05/27 06:00 [medline]
PHST- 2020/04/06 06:00 [entrez]
AID - 10.1007/s12031-020-01534-7 [pii]
AID - 10.1007/s12031-020-01534-7 [doi]
PST - ppublish
SO  - J Mol Neurosci. 2020 Aug;70(8):1255-1256. doi: 10.1007/s12031-020-01534-7. Epub 
      2020 Apr 4.