Edition of 21 April 2017

The authors reported a patient with defects in both N- and O-glycosylation combined with a delayed vesicular transport in the Golgi apparatus due to mutations in TRAPPC11. The patient was a boy who presented with hypotonia and a malformation syndrome, with microcephaly, retrognathia, camptodactyly, high foot arches and abnormal facies. MRI showed brain atrophy, and he developed cholestatic liver, thrombopenia, nephropathy and osteopathy. He died at 5 months of age.

The authors described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in SGPL1. 4 different homozygous mutations were identified in 5 families with the condition. In total, 8 patients were investigated, some of whom also manifested other features, including ichthyosis, primary hypothyroidism, neurological symptoms, and cryptorchidism.

By whole-exome sequencing, the authors identified homozygous missense mutations in EXTL3 in nine affected individuals from five unrelated families. Affected individuals presented with variable osseous abnormalities and neurodevelopmental defects. Severe combined immunodeficiency with a complete absence of T cells was observed in three families.