case_images: PMC8134681_01
case_images: The thriving records of clinical features of the patient. (A) The clinical symptoms and dietary of the patient. (B) BMI SD score of the proband, according to WHO standards, from birth to age 11 months.
case_images: fgene-12-668326-g0001.jpg
case_images: PMC8134681_02_fgene-12-668326-g0001.jpg
case_images: F1
case_images: The height and body mass index (BMI) score of the proband from birth to age 11 months was shown in Figure 1B.
case_images: PMC8134681_02
case_images: The thriving records of clinical features of the patient. (A) The clinical symptoms and dietary of the patient. (B) BMI SD score of the proband, according to WHO standards, from birth to age 11 months.
case_images: fgene-12-668326-g0001.jpg
case_images: PMC8134681_02_fgene-12-668326-g0001.jpg
case_images: F1
case_images: The height and body mass index (BMI) score of the proband from birth to age 11 months was shown in Figure 1B.
case_images: PMC8134681_03
case_images: The genetic test results of the patient. (A) Trio-ES identified homozygous variants on chromosome 5 and inherited from her mother, suggesting that the proband has UPD(5)mat. (B) Array-CGH confirmed UPD(5) by showing the copy neutral AOH across the whole chromosome 5. (C) A homozygous nonsense variant on PCSK1 (c.238C>T) is detected in the proband. Her mother is heterozygous and her father is normal. (D) The variant is confirmed by Sanger sequencing. (E) The variant site is conserved in different species.
case_images: fgene-12-668326-g0002.jpg
case_images: PMC8134681_03_fgene-12-668326-g0002.jpg
case_images: F2
case_images: Trio-ES data showed that 97.9% (1168/1193) variants had a BAF higher than 0.95 on chromosome 5, meaning the absence of heterozygosity (AOH), which is inherited from the mother (Figure 2A). Array-CGH showed no copy number variants in the proband but complete UPD(5) by showing AOH across the entire chromosome (Figure 2B). Trio-ES, respectively. Meanwhile, a homozygous nonsense variant in PCSK1 (NM_000439: c.238C>T, p.Arg80Ter) was detected in the proband, while her mother was a heterozygous carrier and her father was normal (Figure 2C). This variant was confirmed by Sanger sequencing (Figure 2D). The variant whose site is highly conserved among different species caused a protein truncation (Figure 2E). Trio-ES did not identify any other pathogenic or likely pathogenic variants associated with the patient's clinical features or other inherited diseases.