Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.
Int J Mol Sci
; 23(18)2022 Sep 13.
Article
em En
| MEDLINE
| ID: mdl-36142510
ABSTRACT
Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the MAN1B1 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 MAN1B1 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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Defeitos Congênitos da Glicosilação
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article