Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome
Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the <i>MAN1B1</i> gene and characterized by impaired protein and lipid glycosylation. RAFQS is characterized by a delay in intellectual and motor development, facial and other dysmorphis...
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MDPI AG
2022-09-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/18/10606 |
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| author | Irina Zh. Zhalsanova Ekatherina G. Ravzhaeva Anna E. Postrigan Gulnara N. Seitova Daria I. Zhigalina Vasilisa Yu. Udalova Maryana M. Danina Ilya V. Kanivets Nikolay A. Skryabin |
| author_facet | Irina Zh. Zhalsanova Ekatherina G. Ravzhaeva Anna E. Postrigan Gulnara N. Seitova Daria I. Zhigalina Vasilisa Yu. Udalova Maryana M. Danina Ilya V. Kanivets Nikolay A. Skryabin |
| author_sort | Irina Zh. Zhalsanova |
| collection | DOAJ |
| description | Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the <i>MAN1B1</i> gene and characterized by impaired protein and lipid glycosylation. RAFQS is characterized by a delay in intellectual and motor development, facial and other dysmorphism, truncal obesity, behavior problems, and hypotonia. We describe a Russian patient with delayed intellectual and motor development, a lack of speech, disorientation in space and time, impaired attention and memory, and episodes of aggression. Screening for lysosomal, amino acid, organic acid, and mitochondrial disorders was normal. The patient was referred for the targeted sequencing of the “Hereditary Metabolic Disorders” panel. The genetic testing revealed two heterozygous pathogenic variants in the <i>MAN1B1</i> gene: the previously reported c.1000C > T (p.Arg334Cys) and the novel c.1065 + 1 G > C. Thus, the patient’s clinical picture and genetic analysis confirmed RAFQS in the patient. |
| first_indexed | 2024-03-09T23:46:14Z |
| format | Article |
| id | doaj.art-e4fc03efdd3d41899823bc8e395b7f88 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T23:46:14Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-e4fc03efdd3d41899823bc8e395b7f882023-11-23T16:44:29ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-09-0123181060610.3390/ijms231810606Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq SyndromeIrina Zh. Zhalsanova0Ekatherina G. Ravzhaeva1Anna E. Postrigan2Gulnara N. Seitova3Daria I. Zhigalina4Vasilisa Yu. Udalova5Maryana M. Danina6Ilya V. Kanivets7Nikolay A. Skryabin8Tomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, RussiaTomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, RussiaTomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, RussiaTomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, RussiaTomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, RussiaGenomed Ltd., 115093 Moscow, RussiaGenomed Ltd., 115093 Moscow, RussiaGenomed Ltd., 115093 Moscow, RussiaTomsk National Research Medical Center, Research Institute of Medical Genetics, 634050 Tomsk, RussiaRafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the <i>MAN1B1</i> gene and characterized by impaired protein and lipid glycosylation. RAFQS is characterized by a delay in intellectual and motor development, facial and other dysmorphism, truncal obesity, behavior problems, and hypotonia. We describe a Russian patient with delayed intellectual and motor development, a lack of speech, disorientation in space and time, impaired attention and memory, and episodes of aggression. Screening for lysosomal, amino acid, organic acid, and mitochondrial disorders was normal. The patient was referred for the targeted sequencing of the “Hereditary Metabolic Disorders” panel. The genetic testing revealed two heterozygous pathogenic variants in the <i>MAN1B1</i> gene: the previously reported c.1000C > T (p.Arg334Cys) and the novel c.1065 + 1 G > C. Thus, the patient’s clinical picture and genetic analysis confirmed RAFQS in the patient.https://www.mdpi.com/1422-0067/23/18/10606Rafiq syndromecongenital disorders of glycosylation<i>MAN1B</i>next-generation sequencing |
| spellingShingle | Irina Zh. Zhalsanova Ekatherina G. Ravzhaeva Anna E. Postrigan Gulnara N. Seitova Daria I. Zhigalina Vasilisa Yu. Udalova Maryana M. Danina Ilya V. Kanivets Nikolay A. Skryabin Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome International Journal of Molecular Sciences Rafiq syndrome congenital disorders of glycosylation <i>MAN1B</i> next-generation sequencing |
| title | Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome |
| title_full | Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome |
| title_fullStr | Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome |
| title_full_unstemmed | Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome |
| title_short | Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome |
| title_sort | case report compound heterozygous variants of the i man1b1 i gene in a russian patient with rafiq syndrome |
| topic | Rafiq syndrome congenital disorders of glycosylation <i>MAN1B</i> next-generation sequencing |
| url | https://www.mdpi.com/1422-0067/23/18/10606 |
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