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Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

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.

SUBMITTER: Li M 

PROVIDER: S-EPMC7434608 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

Li Mengting M   Yang Qi Q   Yi Sheng S   Qin Zailong Z   Luo Jingsi J   Fan Xin X  

Molecular genetics & genomic medicine 20200610 8

<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>We reported a newborn patient with HPA, having excluded the causes in com  ...[more]

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