Fig. 2: Analysis of the SAMD9 variant in the patient.
From: The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
A Patient and parent polymerase chain reaction-amplified SAMD9 electropherograms; a heterozygous mutation was identified in the patient (arrow). B Alignment (Clustal software) showing the conserved F437 residue. C Growth curves of HEK293 cells transfected without (empty circles) or with (solid circles) wild-type (WT)-SAMD9 (left panel) and F437S-SAMD9 (right panel) plasmids. D Confocal image of patient-derived fibroblasts showing lysosomes and nuclei stained with anti-LAMP-1 antibody (green) and DAPI (blue), respectively.
