Lubbehusen et al. (2010) reported a female infant, born of nonconsanguineous Turkish parents, with a severe neurologic disorder resulting in death at 5 weeks of age. At birth, she showed intractable focal seizures, vomiting, and loss of consciousness ... Lubbehusen et al. (2010) reported a female infant, born of nonconsanguineous Turkish parents, with a severe neurologic disorder resulting in death at 5 weeks of age. At birth, she showed intractable focal seizures, vomiting, and loss of consciousness due to intracranial bleeding resulting in part from a vitamin K deficiency. Laboratory studies showed mildly increased lactate, aspartate aminotransferase, and creatine kinase. Family history revealed 2 other children who died in the perinatal period with signs of an increased bleeding tendency. Huybrechts et al. (2012) reported a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L. At birth, she was noted to have dysmorphic features, including microcephaly, postaxial polydactyly, broad palpebral fissures, retrognathia, and anal anteposition. During the first months of life, she had recurrent infections, diarrhea, and failure to thrive, and was found to have a primary combined immunodeficiency with hypogammaglobulinemia and defective cellular immunity without lymphopenia. Granulocyte function was also abnormal. She later developed multisystem abnormalities, including hepatomegaly, abnormal liver enzymes, micronodular cirrhosis, macrovesicular steatosis, axial hypotonia, mild neurodevelopmental delay, proximal tubulopathy, and inflammatory bowel disease. Serum transferrin isoelectric focusing was abnormal, showing a type II pattern.
In a patient with fatal congenital disorder of glycosylation type IIl, Lubbehusen et al. (2010) identified a homozygous mutation in the COG6 gene (G549V; 606977.0001). Northern blot analysis showed reduced COG6 mRNA (15% of controls), indicating instability of ... In a patient with fatal congenital disorder of glycosylation type IIl, Lubbehusen et al. (2010) identified a homozygous mutation in the COG6 gene (G549V; 606977.0001). Northern blot analysis showed reduced COG6 mRNA (15% of controls), indicating instability of the mutant transcript. Retroviral gene transfer of wildtype COG6 corrected COG complex defects in patient fibroblasts. Huybrechts et al. (2012) found homozygosity for the G549V mutation in the COG6 gene in a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L.