Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Am J Hum Genet
; 92(4): 632-6, 2013 Apr 04.
Article
em En
| MEDLINE
| ID: mdl-23561849
ABSTRACT
Biochemical analysis and whole-exome sequencing identified mutations in the Golgi-localized UDP-galactose transporter SLC35A2 that define an undiagnosed X-linked congenital disorder of glycosylation (CDG) in three unrelated families. Each mutation reduced UDP-galactose transport, leading to galactose-deficient glycoproteins. Two affected males were somatic mosaics, suggesting that a wild-type SLC35A2 allele may be required for survival. In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement. This may indicate selection against cells carrying the mutant allele. To detect other individuals with such mutations, we suggest transferrin testing in infancy. Here, we report somatic mosaicism in CDG, and our work stresses the importance of combining both genetic and biochemical diagnoses.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Uridina Difosfato Galactose
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Proteínas de Transporte de Monossacarídeos
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Defeitos Congênitos da Glicosilação
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Mosaicismo
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Mutação
Tipo de estudo:
Etiology_studies
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Observational_studies
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Prognostic_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article