A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.
Brain Dev
; 44(3): 239-243, 2022 Mar.
Article
em En
| MEDLINE
| ID: mdl-34802815
ABSTRACT
INTRODUCTION:
Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorders, predominantly affecting nervous system. There are N- and O- types of glycosylation. Fucosylation, a form of N-glycosylation, involves many enzymes. Until today, type 1 and type 2 fucosylation defects were identified, having pathogenic variants in genes encoding α-1,6-fucosyltransferase and fucokinase enzymes, respectively. In this article, a patient with type 2 fucosylation defect will be presented, with hypotonia, developmental delay and blindness and a pathogenic variant that was previously described in two patients.METHOD:
Whole exome sequencing (WES) was performed, since the patient had no time to implement diagnostic algorithm for hypotonia etiology.RESULTS:
WES revealed a new pathogenic variant of homozygous c.993_1011del (p.Glu335Hisfs*55) frameshift variant of the FUK gene NM_145059 transcript. She had milder clinical manifestation than reported two patients.CONCLUSION:
Congenital Defect of Glycosylation should be considered when the clinical findings cannot be explained by other known diseases, particularly in patients with multisystemic, predominantly neurological involvement.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fosfotransferases (Aceptor do Grupo Álcool)
/
Defeitos Congênitos da Glicosilação
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article