Abstract 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 were inherited from the parents; the second child of the mother inherited the mutation of c.886C > T (p.R296X) and showed normal acylcarnitine spectrum and normal development after birth. It is concluded that the analysis of CPT2 gene mutations in the family suggested that the proband died of CPT II deficiency and that the identification of the mutations was helpful in prenatal diagnosis in the second pregnancy.
TAN Jian-Qiang,CHEN Da-Yu,LI Wu-Gao et al. CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency[J]. CJCP, 2016, 18(12): 1282-1285.
TAN Jian-Qiang,CHEN Da-Yu,LI Wu-Gao et al. CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency[J]. CJCP, 2016, 18(12): 1282-1285.
Isackson PJ, Bennett MJ, Lichter-Konecki U, et al. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency[J]. Mol Genet Metab, 2008, 94(4): 422-427.
Bonnefont JP, Djouadi F, Prip-Buus C, et al. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects[J]. Mol Aspects Med, 2004, 25(5-6): 495-520.
[4]
Yamamoto S, Abe H, Kohgo T, et al. Two novel gene mutations (Glu174→Lys, Phe383→Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency[J]. Hum Genet, 1996, 98(1): 116-118.
[5]
Isackson PJ, Sutton KA, Hostetler KY, et al. Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency[J]. Muscle Nerve, 2013, 47(2): 224-229.
[6]
Wieser T, Deschauer M, Olek K, et al. Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients[J]. Neurology, 2003, 60(8): 1351-1353.
Corti S, Bordoni A, Ronchi D, et al. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency[J]. J Neurrol Sci, 2008, 266(1-2): 97-103.
Anichini A, Fanin M, Vianey-Saban C, et al. Genotypephenotype correlations in a large series of patients with muscle type CPT II deficiency[J]. Neurol Res, 2011, 33(1): 24-32.
[15]
Joshi PR, Young P, Deschauer M, et al. Expanding mutation spectrum in CPT II gene: identification of four novel mutations[J]. J Neurol, 2013, 260(5): 1412-1414.
[16]
Joshi PR, Deschauer M, Zierz S. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients[J]. J Neurol Sci, 2014, 338(1-2): 107-111.
[17]
Fanin M, Anichini A, Cassandrini D, et al. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency[J]. Clin Genet, 2012, 82(3): 232-239.
[18]
Thuillier L, Sevin C, Demaugre F, et al. Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient[J]. Neuromuscul Disord, 2000, 10(3): 200-205.
