Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.
Expanded understanding of a rare glycosylation disorder revealed survival into adulthood and diverse neurological features, improving diagnosis.
Congenital disorders of glycosylation (CDG) comprise a diverse group of inherited metabolic diseases caused by defects in glycan biosynthesis, with SSR4-CDG being an X-linked form with limited described cases. This study expands the clinical and molecular spectrum of SSR4-CDG—including survival into adulthood and diverse neurological manifestations—and underscores the importance of integrating biochemical, genetic, transcript, and structural modeling analyses to establish variant pathogenicity.
What the study was
- Study design
- Not specified
- Population
- Cancer/disease patients
- Category
- Genomics/Precision Medicine
- Maturity
- Exploratory
- Journal
- Journal of human genetics
Why it surfaced
Matched topic(s): Rare diseases with high unmet need. Study design: Not specified. Score 6/10.
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