Journal of Developmental Medicine(Electronic Version)  2023, Vol. 11 Issue (1): 14-18 DOI: 10.3969/j.issn.2095-5340.2023.01.003 |
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| Screening and gene mutation analysis of neonates with short-chain acyl-coenzyme Adehydrogenase deficiency in Shijiazhuang city of Hebei province |
| Jia Liyun, Feng Lulu, Feng Jizhen, et al
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Department of Genetics, Shijiazhuang Maternaland Child Health Hospital, Hebei, Shijiazhuang 050000, China)
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Abstract 【Abstract】 Objective To investigate the prevalence and clinical characteristics of short-chain acylcoenzymeA dehydrogenase deficiency (SCADD) and the gene mutation of acyl-coenzyme A dehydrogenase(ACADS) in Shijiazhuang city of Hebei province. Method From January 2014 to December 2021, a totalof 185 683 neonates in Shijiazhuang city of Hebei province were screened by tandem mass spectrometry to detectbutylcarnitine (C4), C4/acetylcarnitine (C2), C4/propionyl carnitine (C3). The positive children were furthertested for gene detection and verified by Sanger sequencing. Among 185 683 neonates, 118 502 neonateswith accurate and complete birth age information were divided into premature neonates group (n=5 597),term neonates group (n=112 369) and post term neonates group (n=536), and compared by the level of C4, C4/C2and C4/C3. One-way ANOVA test, t-test and Pearson correlation analysis were performed for statisticalanalysis. Result Four children with SCADD were diagnosed in 185 683 neonates, with a prevalence of1/46 421. Two cases with complex heterozygous mutations, one case with homozygous mutation and onecase with heterozygous mutation of ACADS gene were found. Four mutation sites were found, c.625 G>A,c.1031A>G, c.1157 G>A and c.1130 C>T, all of which were known mutations. The C4 level of the fourchildren in initial screening was 0.65-0.84 μmol/L. No clinical symptoms appeared during the follow-upperiod of the four children. The C4 levels in premature, term and post term neonates were (0.192±0.073),(0.168±0.058) and (0.158±0.052) μmol/L, respectively (F=447.700, P<0.001). The values of C4/C2 were0.011 5±0.004 7, 0.010 6±0.004 0 and 0.010 4±0.003 8 (F=110.200, P<0.001). The values of C4/C3were 0.117 5±0.071 4, 0.116 1±0.056 3 and 0.118 0±0.059 3 (F=2.481, P=0.084). The levels of C4 andC4/C2 in premature neonates were higher than those in term neonates (all P<0.001); the level of C4 in postterm neonates was lower than that in term neonates (P<0.001). The gestational age at birth was negativelycorrelated with C4 level and C4/C2 value (r= -0.119 and -0.036, all P<0.001). Conclusion Tandem massspectrometry combined with gene sequencing technology can confirm the diagnosis of children with SCADDin time. The prevalence of SCADD in Shijiazhuang city of Hebei province is 1/46 421; and four knownmutation sites of ACADS gene were detected.
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Received: 18 July 2022
Published: 30 January 2023
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