Author(s): Rolfs, Prof. Arndt, MD, Griese, Prof. Matthias, MD, Brasch, Frank, MD, Aldana, Ruth, MD, de Lourdes Cabrera-Muñoz, María, MD, Karam Bechara, José, MD, Gölnitz, Uta, MD, Ikonen, Elina, MD, Liebisch, Gerhard, PhD, Linder, Matts D., Lohse, Peter, Meyer, Wolfgang, MD, Schmitz, Prof. Gerd, MD, Pamir, Asli, PhD, Ripper, Jan, MD, Schams, Andrea, Lezana Fernández, José Luis, MD
A patient is presented where the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung lavage fluid. Read more!
Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung lavage fluid and the synthesis of an aberrant, larger sized protein of around 28 kDa.
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