Affiliation:
1. John Sealy School of Medicine, University of Texas Medical Branch Galveston Texas USA
2. Department of Obstetrics and Gynecology University of Texas Medical Branch Galveston Texas USA
3. Division of Medical Genetics and Metabolism, Department of Pediatrics University of Texas Medical Branch Galveston Texas USA
Abstract
AbstractCongenital disorders of glycosylation (CDG) are a group of rare autosomal recessive genetic disorders caused by pathogenic variants in genes coding for N‐glycosylated glycoproteins, which play a role in folding, degrading, and transport of glycoproteins in their pathway. ALG12‐CDG specifically is caused by biallelic pathogenic variants in ALG12. Currently reported features of ALG12‐CDG include: developmental delay, hypotonia, failure to thrive and/or short stature, brain anomalies, recurrent infections, hypogammaglobulinemia, coagulation abnormalities, and genitourinary abnormalities. In addition, skeletal abnormalities resembling a skeletal dysplasia including shortened long bones and talipes equinovarus have been seen in more severe neonatal presentation of this disorder. We report on a case expanding the phenotype of ALG12‐CDG to include bilateral, multicystic kidneys in a neonatal demise identified with homozygous pathogenic variants in the ALG12 gene at c.1001del (p.N334Tfs*15) through clinical trio exome sequencing.