PMID- 35810433
OWN - NLM
STAT- MEDLINE
DCOM- 20220712
LR  - 20220712
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 39
IP  - 7
DP  - 2022 Jul 10
TI  - [Clinical features and genetic variants of a case with carnitine 
      palmitoyltransferase 1A deficiency].
PG  - 739-742
LID - 10.3760/cma.j.cn511374-20210319-00251 [doi]
AB  - OBJECTIVE: To identify the possible pathogenesis of a neonate with carnitine 
      palmitoyltransferase 1A (CPT1A) deficiency by analyzing gene variants. METHODS: 
      Potential variants were detected with an Ion Torrent semiconductor sequencer 
      using a gene panel for inherited diseases, and gene variants were verified by 
      Sanger sequencing. RESULTS: Genetic testing indicated that the neonate has 
      carried c.1895T>A(p.Leu632X) and c.1153G>A (p.Ala385Thr) compound heterozygous 
      variants of the CPT1A gene, which were inherited from his father and mother, 
      respectively. Both variants were verified as novel through the retrieval of HGMD 
      database, ClinVar database and literature. According to the standards and 
      guidelines of the American College of Medical Genetics and Genomics, the 
      c.1895T>A variant was predicted to be pathogenic (PVS1+PM2+PP4) and c.1153G>A as 
      likely pathogenic (PM1+PM2+PM3+PP3). CONCLUSION: The c.1895T>A and c.1153G>A 
      compound heterozygous variants of the CPT1A gene might underlie the pathogenesis 
      of this child. Above results have provided a basis for clinical diagnosis and 
      genetic counseling, and enriched the variant spectrum of the CPT1 deficiency.
FAU - Hong, Dongyang
AU  - Hong D
AD  - Genetic Medicine Center, Obstetrics and Gynecology Hospital Affiliated to Nanjing 
      Medical University (Nanjing Maternal and Child Health Hospital), Nanjing, Jiangsu 
      210004, China. jiangzhang784@163.com.
FAU - Wang, Yanyun
AU  - Wang Y
FAU - Sun, Yun
AU  - Sun Y
FAU - Ma, Dingyuan
AU  - Ma D
FAU - Cheng, Wei
AU  - Cheng W
FAU - Jiang, Tao
AU  - Jiang T
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - EC 2.3.1.21 (Carnitine O-Palmitoyltransferase)
RN  - Carnitine palmitoyl transferase 1A deficiency
SB  - IM
MH  - *Carnitine O-Palmitoyltransferase/deficiency/genetics
MH  - Child
MH  - Genetic Testing
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Hypoglycemia
MH  - Infant, Newborn
MH  - *Lipid Metabolism, Inborn Errors/genetics
MH  - Mutation
EDAT- 2022/07/11 06:00
MHDA- 2022/07/14 06:00
CRDT- 2022/07/10 13:59
PHST- 2022/07/10 13:59 [entrez]
PHST- 2022/07/11 06:00 [pubmed]
PHST- 2022/07/14 06:00 [medline]
AID - 940639144 [pii]
AID - 10.3760/cma.j.cn511374-20210319-00251 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):739-742. doi: 
      10.3760/cma.j.cn511374-20210319-00251.