case_images: PMC10487392_01
case_images: Characteristic facial features of case 1 (1a-left) and case 2 (1b-right).
case_images: j_tnsci-2022-0304-fig001.jpg
case_images: PMC10487392_02_j_tnsci-2022-0304-fig001.jpg
case_images: j_tnsci-2022-0304_fig_001
case_images: A 1-year-old boy was admitted to the hospital because of developmental retardation, microcephaly (head circumference 43 cm), and micrognathia (Figure 1b).
case_images: VPS13B Intron38 c.6940+1G > T heterozygous mutation in case 1, carried by the mother, but not detected by the father.
case_images: j_tnsci-2022-0304-fig002.jpg
case_images: PMC10487392_01_j_tnsci-2022-0304-fig002.jpg
case_images: j_tnsci-2022-0304_fig_002
case_images: T in the VPS13B gene (Figure 2). This mutation was graded in relevant mutation interpretation guidelines by the American College of Medical Genetics (ACMG) as pathogenic.
case_images: PCR verification: to the control, the ratio of copy number of VPS13B exon 3-19 in case 1 and her father was about 0.5, indicating that VPS13B had heterozygous deletion. To the control, the ratio of her mother's copy number of VPS13B exon 3-19 was about 1, suggesting that her mother's copy number was normal.
case_images: j_tnsci-2022-0304-fig003.jpg
case_images: PMC10487392_01_j_tnsci-2022-0304-fig003.jpg
case_images: j_tnsci-2022-0304_fig_003
case_images: The mother's copy number is 2, which is normal, and the deletion is from the father (Figure 3).
case_images: PMC10487392_02
case_images: Characteristic facial features of case 1 (1a-left) and case 2 (1b-right).
case_images: j_tnsci-2022-0304-fig001.jpg
case_images: PMC10487392_02_j_tnsci-2022-0304-fig001.jpg
case_images: j_tnsci-2022-0304_fig_001
case_images: A 1-year-old boy was admitted to the hospital because of developmental retardation, microcephaly (head circumference 43 cm), and micrognathia (Figure 1b).
case_images: VPS13B Intron38 c.6940+1G > T heterozygous mutation in case 2, carried by the mother, but not detected by the father.
case_images: j_tnsci-2022-0304-fig004.jpg
case_images: PMC10487392_02_j_tnsci-2022-0304-fig004.jpg
case_images: j_tnsci-2022-0304_fig_004
case_images: T (Figure 4) and 8q22, NM_017890.4 Exon56 c10334_10335del in the VPS13B gene (Figure 5). These two mutations were graded in relevant mutation interpretation guidelines by the ACMG as pathogenic.
case_images: VPS13B Exon56 c10334_10335del heterozygous deletion in case 2, carried by the father, but not detected by the mother.
case_images: j_tnsci-2022-0304-fig005.jpg
case_images: PMC10487392_02_j_tnsci-2022-0304-fig005.jpg
case_images: j_tnsci-2022-0304_fig_005
case_images: T (Figure 4) and 8q22, NM_017890.4 Exon56 c10334_10335del in the VPS13B gene (Figure 5). These two mutations were graded in relevant mutation interpretation guidelines by the ACMG as pathogenic.