Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2018, Vol. 14 ›› Issue (01): 68 -72. doi: 10.3877/cma.j.issn.1673-5250.2018.01.011

Special Issue:

Original Article

Diagnosis of delayed propionic acidemia and identification of one novel mutation

Yanyun Wang1, Yun Sun1, Tao Jiang1,()   

  1. 1. Center of Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, Jiangsu Province, China
  • Received:2017-11-05 Revised:2018-01-18 Published:2018-02-01
  • Corresponding author: Tao Jiang
  • About author:
    Corresponding author: Jiang Tao, Email:
Objective

To investigate the clinical characteristics and gene mutations of delayed propionic academia (PA).

Methods

One male patient with delayed PA who was hospitalized in Nanjing Maternity and Child Health Care Hospital on May 20, 2016, was chosen as study object. The clinical data of the patient was analyzed retrospectively, including results of tandem mass spectrometry (MS/MS) detection, gas chromatography-mass spectrometry (GC/MS) detection, and clinical manifestations. The DNA was extracted from the blood samples of child and his parents, and the Panel high-throughput sequencing technology was used to amplify the mutations. The study protocol was approved by the Ethnical Review Board of Investigation in Human Beings of Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University.

Results

① There were no specific clinical symptoms of this patient. The concentration of propionyl carnitine (C3) ranged from 2.79-7.03 μmol/L, urine 3-hydroxy propionic acid ranged from 0-129.48 μmol/L. ②Two mutations (c.802C>T, c. 827delG) in PCCA gene were confirmed. The gene detection results showed these two mutations were inherited from father [c.827delG(p.Gly276ValfsX46)] and mother [c.802C>T(p.Arg268Cys)], respectively. The frameshift mutation in PCCA gene (c.827delG) was novel. ③ The follow-up results of liver function and renal function showed normal.

Conclusions

It is important to use a combination of MS/MS, GC/MS and Panel high-throughput sequencing technology in the diagnosis of delayed PA. The mutation c. 827delG is a specific novel mutation of PCCA gene, expanding its mutation spectrum.

表1 本例丙酸血症患儿初筛及不同随访时间点的MS/MS、GC/MS检测结果
图1 本例男性丙酸血症患儿的PCCA基因Sanger测序图(图1A:c.827delG突变遗传自患儿父亲;图1B:c.802C>T突变遗传自患儿母亲)
表2 本例丙酸血症患儿遗传代谢病Panel高通量测序结果
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