Genetic diagnosis of a family with aromatic L-amino acid decarboxylase deficiency
Objective To explore the genetic basis of an aromatic L-amino acid decarboxylase deficiency(AADCD)and provide a theoretical basis for clinical treatment and prenatal diagnosis of the family.Methods Chromosome G banding analysis and single-nucleotide polymorphisms microarray(SNP-array)were used to analyze the whole genome copy number variation.The whole exome sequencing(WES)was explored to analyze,the pathogenic gene mutation of the proband,and Sanger sequencing was used to verify the mutation sites in the samples of the children and their family members.Results No abnormalities were found in chromosome karyotype analysis and SNP-array.The WES results revealed that the proband had carried a homozygous mutation IVS 6+4A＞T of the DDC gene.Sanger sequencing results showed that the brother of the pro-band appeared to have the same homozygous mutation,and their parents were both carriers of the heterozygous mutation IVS 6+4A＞T of the DDC gene.Conclusion A mutation IVS 6+4A＞T of the DDC gene was found in an AADCD family.Above findings have facilitated clinical diagnosis and dericting the next birth strategy.
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