Jos Jansen and colleagues present an exome sequencing analysis in a family with siblings affected by abnormal Golgi glycosylation. They identified several causal variations in CCDC115 gene: a homozygous missense mutation, c.92T>C (p.Leu31Ser) and this one was also compound heterozygous in combination with a heterozygous deletion of CCDC115 (in one family) and a homozygous missense mutation, c.31G>T (p.Asp11Tyr).
Jansen, Jos C. et al. The American Journal of Human Genetics.
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Cincinnati Children's Hospital Medical Center