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Genomic sequence electropherograms. The patient carried a novel c.3288delA (p.Asp1097ThrfsTer6) frameshift mutation of the VPS13D gene, which was not detected in Chinese databases. Only the patient’s father was heterozygous for this mutation among her parents and sister, and her mother was heterozygous for c.12485C>A (p.Thr4162Asn). Pedigree analysis suggested that the disease was consistent with autosomal recessive inheritance.
