biostudies-literatureZhalsanova IZMinistry of Science and Higher Education of the Russian Federation10606https://www.ebi.ac.uk/biostudies/studies/S-EPMC9502887biostudies-literatureUnknown23(18)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 &gt; T (p.Arg334Cys) and the novel c.1065 + 1 G &gt; C. Thus, the patient's clinical picture and genetic analysis confirmed RAFQS in the patient.International journal of molecular sciencesCase Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome.PMC9502887075-15-2021-1061Danina MMUdalova VYPostrigan AESeitova GNKanivets IVZhalsanova IZRavzhaeva EGZhigalina DISkryabin NAfalseCase 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 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 &gt; T (p.Arg334Cys) and the novel c.1065 + 1 G &gt; C. Thus, the patient's clinical picture and genetic analysis confirmed RAFQS in the patient.2022-01-01T00:00:00Z2022 Sep2025-04-21T16:10:08.533Z2025-04-21T16:10:08.533ZS-EPMC95028873614251010.3390/ijms231810606