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 m...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-08-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1303 |
| _version_ | 1827345690960855040 |
|---|---|
| author | Mengting Li Qi Yang Sheng Yi Zailong Qin Jingsi Luo Xin Fan |
| author_facet | Mengting Li Qi Yang Sheng Yi Zailong Qin Jingsi Luo Xin Fan |
| author_sort | Mengting Li |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T23:16:14Z |
| format | Article |
| id | doaj.art-b37964a162f8415eb4ede8bb15b71f02 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:16:14Z |
| publishDate | 2020-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-b37964a162f8415eb4ede8bb15b71f022024-02-21T11:08:50ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-08-0188n/an/a10.1002/mgg3.1303Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemiaMengting Li0Qi Yang1Sheng Yi2Zailong Qin3Jingsi Luo4Xin Fan5Department of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning ChinaDepartment of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning ChinaDepartment of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning ChinaDepartment of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning ChinaDepartment of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning ChinaDepartment of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning ChinaAbstract 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.https://doi.org/10.1002/mgg3.1303DNAJC12hyperphenylalaninemiawhole‐exome sequencing |
| spellingShingle | Mengting Li Qi Yang Sheng Yi Zailong Qin Jingsi Luo Xin Fan Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia Molecular Genetics & Genomic Medicine DNAJC12 hyperphenylalaninemia whole‐exome sequencing |
| title | Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia |
| title_full | Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia |
| title_fullStr | Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia |
| title_full_unstemmed | Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia |
| title_short | Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia |
| title_sort | two novel mutations in dnajc12 identified by whole exome sequencing in a patient with mild hyperphenylalaninemia |
| topic | DNAJC12 hyperphenylalaninemia whole‐exome sequencing |
| url | https://doi.org/10.1002/mgg3.1303 |
| work_keys_str_mv | AT mengtingli twonovelmutationsindnajc12identifiedbywholeexomesequencinginapatientwithmildhyperphenylalaninemia AT qiyang twonovelmutationsindnajc12identifiedbywholeexomesequencinginapatientwithmildhyperphenylalaninemia AT shengyi twonovelmutationsindnajc12identifiedbywholeexomesequencinginapatientwithmildhyperphenylalaninemia AT zailongqin twonovelmutationsindnajc12identifiedbywholeexomesequencinginapatientwithmildhyperphenylalaninemia AT jingsiluo twonovelmutationsindnajc12identifiedbywholeexomesequencinginapatientwithmildhyperphenylalaninemia AT xinfan twonovelmutationsindnajc12identifiedbywholeexomesequencinginapatientwithmildhyperphenylalaninemia |