Fig. 2

The genetic and clinical characteristics of infantile malignant osteopetrosis patient. A. The high-precision whole exome PLUS sequencing report of the patient’s family. B. Pedigree of the Chinese family with patient carried c.1371delC/c.504-1G > C compound heterozygous variations in gene TCIRG1. Half-blue symbols represent healthy carriers with a heterozygous mutation. Filled blue symbols refer to patients with autosomal recessive disease. Black arrow indicates the proband. C. Sanger sequencing chromatograms from genomic cDNA confirmed the compound heterozygous variations of the patient. D. The blue arrow points to the postoperative changes in cranioplasty, the yellow arrow points to the closed cranial suture, and red triangle points to the irregular skull shape and bone sclerosis in the radiograph of head. E. Blue stars show the increased lung texture, and red triangles point to the increased bone density in the chest radiograph. F. White arrow points the femoral shaft fracture, and increased bone density. Red triangles point to the osteosclerosis of cortical bone in the radiograph of the left leg