PMC10487392_01
Characteristic facial features of case 1 (1a-left) and case 2 (1b-right).
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A 1-year-old boy was admitted to the hospital because of developmental retardation, microcephaly (head circumference 43 cm), and micrognathia (Figure 1b).
VPS13B Intron38 c.6940+1G > T heterozygous mutation in case 1, carried by the mother, but not detected by the father.
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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.
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.
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The mother's copy number is 2, which is normal, and the deletion is from the father (Figure 3).
PMC10487392_02
Characteristic facial features of case 1 (1a-left) and case 2 (1b-right).
j_tnsci-2022-0304-fig001.jpg
PMC10487392_02_j_tnsci-2022-0304-fig001.jpg
j_tnsci-2022-0304_fig_001
A 1-year-old boy was admitted to the hospital because of developmental retardation, microcephaly (head circumference 43 cm), and micrognathia (Figure 1b).
VPS13B Intron38 c.6940+1G > T heterozygous mutation in case 2, carried by the mother, but not detected by the father.
j_tnsci-2022-0304-fig004.jpg
PMC10487392_02_j_tnsci-2022-0304-fig004.jpg
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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.
VPS13B Exon56 c10334_10335del heterozygous deletion in case 2, carried by the father, but not detected by the mother.
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PMC10487392_02_j_tnsci-2022-0304-fig005.jpg
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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.