case_images: PMC10613706_01
case_images: PMC10613706_02
case_images: Singer verification of case 1: the child shown in (A) has a mutation in the c.1215_1216delAG site of DGAT1 gene, and the mutation comes from his mother. The child shown in (B) has a mutation in the c.838C >T locus of the DGAT1 gene, and the mutation comes from his father. Singer verification in case 2: (C) shows that the child has a mutation at the c.1215_1216delAG site of DGAT1 gene after singer verification, and the mutation comes from his father. The child shown in (D) had a mutation in the c.1049C >T locus of the DGAT1 gene, and the mutation originated from his mother.
case_images: fped-11-1253800-g001.jpg
case_images: PMC10613706_03_fped-11-1253800-g001.jpg
case_images: F1
case_images: Singer sequencing confirmed that the mutations originated from the father and mother, demonstrating compound heterozygous mutations (Figure 1).
case_images: PMC10613706_03
case_images: Singer verification of case 1: the child shown in (A) has a mutation in the c.1215_1216delAG site of DGAT1 gene, and the mutation comes from his mother. The child shown in (B) has a mutation in the c.838C >T locus of the DGAT1 gene, and the mutation comes from his father. Singer verification in case 2: (C) shows that the child has a mutation at the c.1215_1216delAG site of DGAT1 gene after singer verification, and the mutation comes from his father. The child shown in (D) had a mutation in the c.1049C >T locus of the DGAT1 gene, and the mutation originated from his mother.
case_images: fped-11-1253800-g001.jpg
case_images: PMC10613706_03_fped-11-1253800-g001.jpg
case_images: F1
case_images: Singer sequencing confirmed that the mutations originated from the father and mother, demonstrating compound heterozygous mutations (Figure 1).
case_images: Growth charts of case 1 and case 2. (A) Shows the growth curve of case 1. (B) Is the weight growth curve of case 1. (C) Shows the growth curve of case 2. (D) Shows the weight growth curve of case 2.
case_images: fped-11-1253800-g002.jpg
case_images: PMC10613706_03_fped-11-1253800-g002.jpg
case_images: F2
case_images: However, the body weight growth was slow; therefore, her diet was transitioned to a low-fat (3% of total energy provided by fat) amino acid formula powder, and her body weight increased to the 3rd percentile at 11 months (Figure 2). The infant was followed up until 7 of age; no diarrhea was observed, and his body weight increased to 5 kg (Figures 2, 3).
case_images: Trend chart of hemoglobin and albumin in case 2.
case_images: fped-11-1253800-g003.jpg
case_images: PMC10613706_03_fped-11-1253800-g003.jpg
case_images: F3
case_images: The infant was followed up until 7 of age; no diarrhea was observed, and his body weight increased to 5 kg (Figures 2, 3).