PMC9977293_01
Image of patient with characteristic clinical manifestations of the HI disease. The patient's body is covered with a thick layer of skin and deep fissures. Patient also has abnormal eyes and ears; flatter lipids and nose; necrotizing fingers and toes after birth.
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PMC9977293_01_fped-11-1128716-g001.jpg
F1
After 5 days, the infant was transferred to the Vietnam National Hospital of Pediatrics with severe infection, mild edema, skin with many cracks, yellow discharge, and necrosis of fingers and toes (Figure 1).
PMC9977293_02
(A): pedigree of the patient's family. The pedigree of the patient's family including parents, a sister who died of HI disease, a stillbirth boy at 12 weeks of prenancy, a healthy brother, a brother and a sister who carrying the mutation and the patient. (B): The Sanger sequencing results of the members in the patient's family. The results show that the patient's parents, an older brother, and an older sister carry a heterozygous mutation (c.6353C > G) in the ABCA12 gene. The patient bear the homozygous mutation (c.6353C > G) and the other healthy brother who was born in 2013 does not have the mutation.
fped-11-1128716-g002.jpg
PMC9977293_05_fped-11-1128716-g002.jpg
F2
The Sanger sequencing method was used to validate the results in the patient and the patient's family members (Figure 2B).
PMC9977293_03
PMC9977293_04
PMC9977293_05
(A): pedigree of the patient's family. The pedigree of the patient's family including parents, a sister who died of HI disease, a stillbirth boy at 12 weeks of prenancy, a healthy brother, a brother and a sister who carrying the mutation and the patient. (B): The Sanger sequencing results of the members in the patient's family. The results show that the patient's parents, an older brother, and an older sister carry a heterozygous mutation (c.6353C > G) in the ABCA12 gene. The patient bear the homozygous mutation (c.6353C > G) and the other healthy brother who was born in 2013 does not have the mutation.
fped-11-1128716-g002.jpg
PMC9977293_05_fped-11-1128716-g002.jpg
F2
The Sanger sequencing method was used to validate the results in the patient and the patient's family members (Figure 2B).