B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
Clin Genet
; 97(6): 920-926, 2020 06.
Article
em En
| MEDLINE
| ID: mdl-32157688
ABSTRACT
A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we identified three additional patients homozygous for a novel mutation in B4GALT1, expanding the phenotypic spectrum of the disease. The patients showed a uniform clinical presentation with intellectual disability, marked pancytopenia requiring chronic management, and novel features including pulmonary hypertension and nephrotic syndrome. Notably, affected individuals exhibited a moderate elevation of Man3GlcNAc4Fuc1 on serum N-glycan analysis, yet two of the patients had a normal pattern of transferrin glycosylation in repeated analysis. The novel mutation is the third disease-causing variant described in B4GALT1, and the first one within its transmembrane domain.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Defeitos Congênitos da Glicosilação
/
Galactosiltransferases
/
Deficiência Intelectual
/
Síndrome Nefrótica
Limite:
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Israel