| Autor: |
Hua, Zhang, Fuqing, Zhang, Min, Liu, Huafeng, Guo |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(7) |
| ISSN: |
1003-9406 |
| Popis: |
To explore the genetic basis for a Chinese patient with congenital disorders of glycosylation-If (CDG-If).Whole exome sequencing (WES) was carried out for the patient.The patient, a 5-year-old girl, has featured severe mental retardation. She had learned to walk at 4 years old and was only able to make sounds like "ma ma" occasionally. She was found to harbor compound heterozygous variants of the MPDU1 gene, namely c.389GA and c.470TC, both of which were unreported previously.Above finding has enriched the mutational spectrum of CDG-If among the Chinese population, with c.218GA being the commonest mutation, along with a more severe phenotype. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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