Abstract:
BACKGROUND:Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12-associated HPA is a rare in Chinese population so far. METHODS:The clinical information and blood samples from the patient and his family members were collected and analyzed. Whole-exome sequencing (WES) was used to identify the causative gene. RESULTS:We reported a newborn patient with HPA, having excluded the causes in common genes associated with HPA. By using whole-exome sequencing, novel compound heterozygosity mutations in DNAJC12 were found, namely c.306C>G (p.His102Gln) and c.182delA (p.Lys61Argfs*6). Administering a diet with low phenylalanine combined with tetrahydrobiopterin and neurotransmitter precursors were shown to be effective in preventing neurodevelopmental delay for these patients. CONCLUSION:Our finding confirms the diagnosis of DNAJC12-associated HPA and suggests that genetic detection of DNAJC12 should be considered when newborn screening results are positive for HPA.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Li M,Yang Q,Yi S,Qin Z,Luo J,Fan Xdoi
10.1002/mgg3.1303subject
Has Abstractpub_date
2020-08-01 00:00:00pages
e1303issue
8issn
2324-9269journal_volume
8pub_type
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