PMID- 35559039
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220716
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 13
DP  - 2022
TI  - Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in 
      Eight Chinese Patients.
PG  - 868942
LID - 10.3389/fgene.2022.868942 [doi]
LID - 868942
AB  - Background: Lesch-Nyhan disease (LND) is a rare disorder involving pathogenic 
      variants in the HPRT1 gene encoding the enzyme hypoxanthine-guanine 
      phosphoribosyltransferase (HGPRT) that result in hyperuricemia, intellectual 
      disability, dystonic movement disorder, and compulsive self-mutilation. The 
      purpose of the present study was to characterize the genetic basis of LND and 
      describe its phenotypic heterogeneity by identifying the variation in the HPRT1 
      gene in a cohort of Chinese LND patients. Results: The median age at diagnosis 
      was 31 mo (interquartile range (IQR): 7-76 mo), and the initial manifestations 
      were mainly head control weakness and motor development delay. The median age of 
      self-mutilation behavior onset was 19 mo (IQR: 17-24 mo), and all patients were 
      required to travel in a wheelchair and fall into the predicament of compulsive 
      self-harm behavior. There were two patients whose blood uric acid levels were 
      normal for their high urinary acid excretion fraction without taking uric 
      acid-lowering drugs. Seven different pathogenic variants of the HPRT1 gene were 
      identified among eight independent pedigrees, including four novel mutations 
      [c.299 (exon 3) T > A; loss (exon: 6) 84 bp; c.277_281delATTGC; c.468_470delGAT]. 
      The pathogenic variant sites were mainly concentrated in exon 3, and truncating 
      mutations (including frameshift mutations and nonsense mutations) were the most 
      common genetic variant types (5/7, 71.4%). Conclusion: The present study 
      described the phenotypic and molecular spectrum of LND in eight Chinese families, 
      including four novel mutations, which expands our understanding of LND.
CI  - Copyright (c) 2022 Li, Qiao, Liu, Wang, Shen, Fu and Mao.
FAU - Li, Lu
AU  - Li L
AD  - Department of Nephrology, Children's Hospital, National Clinical Research Center 
      for Child Health, National Children's Regional Medical Center, Zhejiang 
      University School of Medicine, Hangzhou, China.
FAU - Qiao, Xiaohui
AU  - Qiao X
AD  - Department of Nephrology, Ningbo Women and Children's Hospital, Ningbo, China.
FAU - Liu, Fei
AU  - Liu F
AD  - Department of Nephrology, Children's Hospital, National Clinical Research Center 
      for Child Health, National Children's Regional Medical Center, Zhejiang 
      University School of Medicine, Hangzhou, China.
FAU - Wang, Jingjing
AU  - Wang J
AD  - Department of Nephrology, Children's Hospital, National Clinical Research Center 
      for Child Health, National Children's Regional Medical Center, Zhejiang 
      University School of Medicine, Hangzhou, China.
FAU - Shen, Huijun
AU  - Shen H
AD  - Department of Nephrology, Children's Hospital, National Clinical Research Center 
      for Child Health, National Children's Regional Medical Center, Zhejiang 
      University School of Medicine, Hangzhou, China.
FAU - Fu, Haidong
AU  - Fu H
AD  - Department of Nephrology, Children's Hospital, National Clinical Research Center 
      for Child Health, National Children's Regional Medical Center, Zhejiang 
      University School of Medicine, Hangzhou, China.
FAU - Mao, Jian-Hua
AU  - Mao JH
AD  - Department of Nephrology, Children's Hospital, National Clinical Research Center 
      for Child Health, National Children's Regional Medical Center, Zhejiang 
      University School of Medicine, Hangzhou, China.
LA  - eng
PT  - Journal Article
DEP - 20220426
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC9086273
OTO - NOTNLM
OT  - HPRT1 gene
OT  - Lesch-Nyhan disease
OT  - dystonia
OT  - hyperuricemia
OT  - self-mutilation
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2022/05/14 06:00
MHDA- 2022/05/14 06:01
PMCR- 2022/04/26
CRDT- 2022/05/13 18:22
PHST- 2022/02/03 00:00 [received]
PHST- 2022/03/25 00:00 [accepted]
PHST- 2022/05/13 18:22 [entrez]
PHST- 2022/05/14 06:00 [pubmed]
PHST- 2022/05/14 06:01 [medline]
PHST- 2022/04/26 00:00 [pmc-release]
AID - 868942 [pii]
AID - 10.3389/fgene.2022.868942 [doi]
PST - epublish
SO  - Front Genet. 2022 Apr 26;13:868942. doi: 10.3389/fgene.2022.868942. eCollection 
      2022.