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Hum Mutat ; 42(2): 142-149, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33300232

RESUMEN

Signal sequence receptor protein 4 (SSR4) is a subunit of the translocon-associated protein complex, which participates in the translocation of proteins across the endoplasmic reticulum membrane, enhancing the efficiency of N-linked glycosylation. Pathogenic variants in SSR4 cause a congenital disorder of glycosylation: SSR4-congenital disorders of glycosylation (CDG). We describe three SSR4-CDG boys and review the previously reported. All subjects presented with hypotonia, failure to thrive, developmental delay, and dysmorphic traits and showed a type 1 serum sialotransferrin profile, facilitating the diagnosis. Genetic confirmation of this X-linked CDG revealed one de novo hemizygous deletion, one maternally inherited deletion, and one de novo nonsense mutation of SSR4. The present subjects highlight the similarities with a connective tissue disorder (redundant skin, joint laxity, blue sclerae, and vascular tortuosity). The connective tissue problems are relevant, and require preventive rehabilitation measures. As an X-linked disorder, genetic counseling is essential.


Asunto(s)
Proteínas de Unión al Calcio , Trastornos Congénitos de Glicosilación , Glicoproteínas de Membrana , Receptores Citoplasmáticos y Nucleares , Receptores de Péptidos , Proteínas de Unión al Calcio/genética , Trastornos Congénitos de Glicosilación/diagnóstico , Trastornos Congénitos de Glicosilación/genética , Trastornos Congénitos de Glicosilación/patología , Tejido Conectivo/patología , Glicosilación , Humanos , Masculino , Glicoproteínas de Membrana/genética , Fenotipo , Receptores Citoplasmáticos y Nucleares/genética , Receptores de Péptidos/genética
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