PMID- 37503585
OWN - NLM
STAT- MEDLINE
DCOM- 20230731
LR  - 20230731
IS  - 0253-9772 (Print)
IS  - 0253-9772 (Linking)
VI  - 45
IP  - 7
DP  - 2023 Jul 20
TI  - Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal 
      dystrophy.
PG  - 617-623
LID - 10.16288/j.yczz.23-034 [doi]
AB  - Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive 
      neurodegenerative disease characterized by early hypotonia, and rapid progression 
      to psychomotor development regression, pyramidal tract positivity, and spastic 
      quadriplegia. In this report, we describe a Chinese patient with INAD who 
      presented with hypotonia, delayed motor and language development, and 
      subsequently improved with rehabilitation training. Genetic testing revealed that 
      the patient had compound heterozygous PLA2G6 gene variants, with the heterozygous 
      c.496dupG (p.Glu166fsTer32) variant inherited from her father and the 
      heterozygous c.2189T>G (p.Met730Arg) variant inherited from her mother. The 
      p.Met730Arg was a novel variant. The protein structure predicts that the 
      structural stability of the mutant protein may change, and the in vivo 
      experimental results show that the expression of the mutant protein decrease. 
      This study enriches the PLA2G6 gene mutation spectrum, and improves the 
      clinicians' diagnostic awareness of INAD.
FAU - Gong, Wei-da
AU  - Gong WD
AD  - Department of Rehabilitation, Wuhu No.1 People's Hospotal of Anhui Province, Wuhu 
      241060.
FAU - Tao, Gang
AU  - Tao G
AD  - Department of Rehabilitation, Wuhu No.1 People's Hospotal of Anhui Province, Wuhu 
      241060.
FAU - Zhao, Tian-Tian
AU  - Zhao TT
AD  - Department of Rehabilitation, Wuhu No.1 People's Hospotal of Anhui Province, Wuhu 
      241060.
FAU - Yang, Yue
AU  - Yang Y
AD  - Department of Rehabilitation, Wuhu No.1 People's Hospotal of Anhui Province, Wuhu 
      241060.
FAU - Ji, Hong
AU  - Ji H
AD  - Department of Rehabilitation, Wuhu No.1 People's Hospotal of Anhui Province, Wuhu 
      241060.
LA  - eng
PT  - Journal Article
PL  - China
TA  - Yi Chuan
JT  - Yi chuan = Hereditas
JID - 9436478
SB  - IM
MH  - Humans
MH  - Child
MH  - Female
MH  - *Neurodegenerative Diseases/genetics
MH  - Muscle Hypotonia/genetics
MH  - Genetic Testing
MH  - Mutation
MH  - *Neuroaxonal Dystrophies/genetics
OTO - NOTNLM
OT  - PLA2G6
OT  - infantile neuroaxonal dystrophy (INAD)
EDAT- 2023/07/28 06:42
MHDA- 2023/07/31 06:42
CRDT- 2023/07/28 04:43
PHST- 2023/07/31 06:42 [medline]
PHST- 2023/07/28 06:42 [pubmed]
PHST- 2023/07/28 04:43 [entrez]
AID - 23-034 [pii]
AID - 10.16288/j.yczz.23-034 [doi]
PST - ppublish
SO  - Yi Chuan. 2023 Jul 20;45(7):617-623. doi: 10.16288/j.yczz.23-034.