CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency

• Published in: Zhongguo dang dai er ke za zhi 2016-12, Vol.18 (12), p.1282
• Main Authors: Tan, Jian-Qiang, Chen, Da-Yu, Li, Wu-Gao, Li, Zhe-Tao, Huang, Ji-Wei, Yan, Ti-Zhen, Cai, Ren
• Format: Article
• Language: Chinese
• Subjects: Carnitine O-Palmitoyltransferase - deficiency; Carnitine O-Palmitoyltransferase - genetics; Female; Humans; Infant; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - genetics; Mutation; Prenatal Diagnosis
• ISSN: 1008-8830
• DOI: 10.7499/j.issn.1008-8830.2016.12.017

This study aimed to identify the type of carnitine palmitoyltransferase 2 (CPT2) gene mutation in the child with carnitine palmitoyltransferase II (CPT II) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old female baby was admitted to the hospital due to fever which had lasted for 8 hours. Tandem mass spectrometric analysis for blood showed an elevated plasma level of acylcarnitine, which suggested CPT II deficiency. The genomic DNA was extracted from peripheral blood of the patient and her parents. Five exon coding regions and some intron regions at the exon/intron boundaries of the CPT2 gene were analyzed by PCR and Sanger sequencing. Amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of CPT2 gene mutation. Sanger sequencing results showed that two mutations were identified in the CPT2 gene of the proband: c.886C>T (p.R296X) and c.1148T>A (p.F383Y), which we