The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.
J Hum Genet
; 67(2): 103-106, 2022 Feb.
Article
em En
| MEDLINE
| ID: mdl-34462534
ABSTRACT
Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patient with a homozygous pathogenic variant in DDOST (c.1187G>A) and who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in our patient. This finding further identifies DDOST as a genetic cause of CDGs and expands the clinical phenotype of DDOST-CDG.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Defeitos Congênitos da Glicosilação
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Predisposição Genética para Doença
/
Hexosiltransferases
/
Proteínas de Membrana
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China