ALG11-CDG syndrome: Expanding the phenotype.
Am J Med Genet A
; 179(3): 498-502, 2019 03.
Article
em En
| MEDLINE
| ID: mdl-30676690
ABSTRACT
ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11-CDG due to novel mutations, review the literature of previously described affected individuals, and further expand the clinical phenotype. Both affected individuals reported here had severe psychomotor disabilities and epilepsy. Their fibroblasts synthesized truncated precursor glycan structures, consistent with ALG11-CDG, while also showing hypoglycosylation of a novel biomarker, GP130. Surprisingly, one patient presented with normal transferrin glycosylation profile, a feature that has not been reported previously in patients with ALG11-CDG. Together, our data expand the clinical and mutational spectrum of ALG11-CDG.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Defeitos Congênitos da Glicosilação
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Predisposição Genética para Doença
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Estudos de Associação Genética
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Manosiltransferases
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2019
Tipo de documento:
Article