PMID- 35006644
OWN - NLM
STAT- MEDLINE
DCOM- 20220412
LR  - 20220530
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 188
IP  - 5
DP  - 2022 May
TI  - Pathogenic variant in NFIA associated with subdural hematomas mimicking 
      nonaccidental trauma.
PG  - 1538-1544
LID - 10.1002/ajmg.a.62647 [doi]
AB  - Subdural hematoma (SDH) in infants raises the concern for nonaccidental trauma 
      (NAT), especially when presenting with associated injuries. However, isolated SDH 
      could be caused by multiple etiologies. NFIA (MIM# 600727) encodes nuclear factor 
      I A protein (NFI-A), a transcription factor which plays important roles in 
      gliogenesis. Loss-of-function variants in NFIA are associated with autosomal 
      dominant brain malformations with or without urinary tract defects (MIM# 613735). 
      Intracranial hemorrhage of various types besides SDH has been reported in 
      patients with this condition. Here, we report a patient with a heterozygous novel 
      NFIA pathogenic variant affecting splicing who initially presented with SDH 
      concerning for NAT. We also review previous NFIA-related disorder cases with 
      intracranial hemorrhage. This report emphasizes the importance of genetic 
      evaluation in infants presenting with isolated SDH.
CI  - (c) 2022 Wiley Periodicals LLC.
FAU - Wongkittichote, Parith
AU  - Wongkittichote P
AUID- ORCID: 0000-0002-7321-307X
AD  - Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington 
      University School of Medicine, St Louis, Missouri, USA.
FAU - Kondis, Jamie S
AU  - Kondis JS
AD  - Child Abuse Pediatrics, Department of Pediatrics, Washington University School of 
      Medicine, St Louis, Missouri, USA.
FAU - Peglar, Lindsay M
AU  - Peglar LM
AD  - Division of Pediatric Neurology, Department of Neurology, Washington University 
      School of Medicine, St Louis, Missouri, USA.
FAU - Strahle, Jennifer M
AU  - Strahle JM
AD  - Department of Neurosurgery, Washington University School of Medicine, St Louis, 
      Missouri, USA.
FAU - Miller-Thomas, Michelle
AU  - Miller-Thomas M
AD  - Mallinckrodt Institute of Radiology, Washington University School of Medicine, St 
      Louis, Missouri, USA.
FAU - Abell, Katherine B
AU  - Abell KB
AD  - Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington 
      University School of Medicine, St Louis, Missouri, USA.
LA  - eng
PT  - Case Reports
DEP - 20220110
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (NFI Transcription Factors)
RN  - 0 (NFIA protein, human)
SB  - IM
MH  - Diagnosis, Differential
MH  - *Hematoma, Subdural/diagnosis/genetics
MH  - Humans
MH  - Infant
MH  - *NFI Transcription Factors
OTO - NOTNLM
OT  - NFIA-related disorder
OT  - abusive head trauma
OT  - subdural hematomas
EDAT- 2022/01/11 06:00
MHDA- 2022/04/13 06:00
CRDT- 2022/01/10 12:41
PHST- 2021/11/18 00:00 [revised]
PHST- 2021/08/23 00:00 [received]
PHST- 2021/12/26 00:00 [accepted]
PHST- 2022/01/11 06:00 [pubmed]
PHST- 2022/04/13 06:00 [medline]
PHST- 2022/01/10 12:41 [entrez]
AID - 10.1002/ajmg.a.62647 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2022 May;188(5):1538-1544. doi: 10.1002/ajmg.a.62647. Epub 2022 
      Jan 10.