Objective To conduct a genetic analysis of a male child with growth retardation and his family,clarify the etiology,and provide a basis for prognosis and treatment.Methods Whole exome high-throughput sequencing analysis was performed on the child's whole blood,and Sanger sequencing was used to validate the suspected pathogenic gene variant sites in the child and his parents,with further confirmation through urinary organic acid testing.Results The child presented with sinus tachycardia and ST-T changes.Whole exome sequencing revealed a variant in the TAFAZZIN gene.Sanger sequencing confirmed the child's fetal heterozygous variant c.108del(p.Lys37Serfs*3),a novel mutation not previously reported.The mother was identified as a carrier of the heterozygous variant c.108del(p.Lys37Serfs*3).Urinary organic acid analysis showed mild elevation in 3-methylglutaconic acid and elevated 3-methylglutaric acid,leading to a comprehensive diagnosis of Barth syndrome.Conclusion The variant c.108del(p.Lys37Serfs*3)in the TAFAZZIN gene is the pathogenic cause of growth retar-dation in this child.The genetic test results provide a basis for the child's subsequent treatment and genetic counseling for the family.
NETL
NSTL
万方数据
