Neonatal Disease

Neonatal screening and gene variation analysis of primary carnitine deficiency in Hefei City

  • Haili HU ,
  • Weidong LI ,
  • Yan WANG ,
  • Wangsheng SONG ,
  • Qingqing MA
Expand
  • 1. The Health Center of Women and Children in Hefei, Hefei 230092, Anhui, China
    2. Anhui Maternal and Child Health Hospital, Hefei 230001, Anhui, China

Received date: 2022-10-09

  Online published: 2023-10-08

Abstract

Objective To analyze the screening status and genetic variation characteristics of primary carnitine deficiency (PCD) in neonates in Hefei. Methods A total of 631839 newborn screening samples screened by Hefei Neonatal Disease Screening Center from January 2016 to December 2021 were detected by tandem mass spectrometry. Newborns and their mothers with positive initial screening were recalled for re-screening. If the re-screening results were still lower than the critical reference value, high-throughput second-generation gene sequencing was performed. Results A total of 32 neonates were diagnosed with PCD (overall incidence: 1/19745). Among 32 neonates, 31 underwent high-throughput sequencing combined with Sanger validation, 1 had no genetic variation and 30 had genetic variation (18 boys and 12 girls). There were 25 cases of complex heterozygous variation and 5 cases of homozygous variation, and the gene diagnosis rate was 96.8%. Among the 60 variants of SLC22A5 gene in 30 positive children, c.1400C>G had the highest variation ratio, accounting for 48.3% (29/60), followed by c.51C>G, accounting for 15.0% (9/60). Conclusions The overall incidence of neonatal PCD in Hefei was not significantly different from that in other areas of China. c.1400C>G and c.51C>G were the common sites of PCD gene variation in newborns in Hefei City.

Cite this article

Haili HU , Weidong LI , Yan WANG , Wangsheng SONG , Qingqing MA . Neonatal screening and gene variation analysis of primary carnitine deficiency in Hefei City[J]. Journal of Clinical Pediatrics, 2023 , 41(10) : 680 -684 . DOI: 10.12372/jcp.2023.22e1344

References

[1] Chen Y, Lin Q, Zeng Y, et al. Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency[J]. Mol Genet Genomic Med, 2021, 9(2): e1583.
[2] Rasmussen J, Nielsen OW, Janzen N, et al. Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands[J]. J Inherit Metab Dis, 2014, 37(2): 215-222.
[3] Wilcken B, Wiley V, Hammond J, et al. Screening newborns for inborn errors of metabolism by tandem mass spectrometry[J]. N Engl J Med, 2003, 348(23):2304-2312.
[4] Lin Y, Lin B, Chen Y, et al. Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening[J]. Orphanet J Rare Dis, 2021, 16(1): 503.
[5] 李晓乐, 朱昕赟, 贾晨璐, 等. 河南省原发性肉碱缺乏症的新生儿筛查及基因突变分析[J]. 中华医学遗传学杂志, 2019, 36(12): 1167-1170.
[6] 中华预防医学会出生缺陷预防与控制专业委员会新生儿遗传代谢病筛查学组, 中华医学会儿科分会出生缺陷预防与控制专业委员会, 中国医师协会医学遗传医师分会临床生化遗传专业委员会, 等. 原发性肉碱缺乏症筛查与诊治共识[J]. 中华医学杂志, 2019, 99(2): 88-92.
[7] 黄永兰, 唐诚芳, 刘思迟, 等. 广州市原发性肉碱缺乏症新生儿筛查评估及SLC22A5基因变异谱特征[J]. 中华儿科杂志, 2020, 58(6): 476-481.
[8] 贾立云, 封纪珍, 王熙, 等. 石家庄地区新生儿原发性肉碱缺乏症串联质谱筛查结果分析[J]. 河北医科大学学报, 2021, 42(3): 309-313.
[9] 孙云, 王彦云, 马定远, 等. 南京地区175 767例串联质谱技术新生儿筛查结果分析[J]. 中华围产医学杂志, 2020, 23(4): 224-231.
[10] Frigeni M, Balakrishnan B, Yin X, et al. Functional and molecular studies in primary carnitine deficiency[J]. Hum Mutat, 2017, 38(12): 1684-1699.
[11] 周晓强, 滕炎玲, 林彭思远, 等. 40例肉碱缺乏症新生儿的生化和遗传学特征[J]. 中南大学学报(医学版), 2020, 45(10): 1164-1171.
[12] 陈大宇, 谭建强, 杨金玲, 等. 肉碱转运障碍携带者基因结果分析与疾病预防[J]. 中国优生与遗传杂志, 2021, 29(05): 700-702.
[13] 温鹏强, 陈占玲, 王国兵, 等. 原发性肉碱缺乏症患者临床特点和SLC22A5基因突变分析[J]. 中华内分泌代谢杂志, 2017, 33(3): 208-214.
[14] Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, et al. Genotype-phenotype correlation in primary carnitine deficiency[J]. Hum Mutat, 2012, 33(1): 118-123.
Outlines

/