Genetic analysis of a Chinese patient with congenital disorders of glycosylation-If
OBJECTIVE: To explore the genetic basis for a Chinese patient with congenital disorders of glycosylation-If (CDG-If).
METHODS: Whole exome sequencing (WES) was carried out for the patient.
RESULTS: 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.389G>A and c.470T>C, both of which were unreported previously.
CONCLUSION: Above finding has enriched the mutational spectrum of CDG-If among the Chinese population, with c.218G>A being the commonest mutation, along with a more severe phenotype.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:39 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 39(2022), 7 vom: 10. Juli, Seite 731-734 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Zhang, Hua [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 12.07.2022 Date Revised 07.12.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20201026-00750 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM343309157 |
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| 245 | 1 | 0 | |a Genetic analysis of a Chinese patient with congenital disorders of glycosylation-If |
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| 500 | |a Date Completed 12.07.2022 | ||
| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To explore the genetic basis for a Chinese patient with congenital disorders of glycosylation-If (CDG-If) | ||
| 520 | |a METHODS: Whole exome sequencing (WES) was carried out for the patient | ||
| 520 | |a RESULTS: 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.389G>A and c.470T>C, both of which were unreported previously | ||
| 520 | |a CONCLUSION: Above finding has enriched the mutational spectrum of CDG-If among the Chinese population, with c.218G>A being the commonest mutation, along with a more severe phenotype | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Zhang, Fuqing |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Min |e verfasserin |4 aut | |
| 700 | 1 | |a Guo, Huafeng |e verfasserin |4 aut | |
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