Genetic analysis of a child with developmental disorder and epilepsy due to a homozygous variant of PIGW gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring global developmental disorder with epilepsy.@*METHODS@#A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance.@*CONCLUSION@#The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.

The variation and clinical significance of growth hormone and insulin like growth factor-Ⅰ in children with critical disease / 中国小儿急救医学

Objective To explore the variation and clinical significance of growth hormone(GH) and insulin like growth factor-Ⅰ(IGF-Ⅰ) in children with critical disease.Methods One hundred and twenty-two cases were recruited into the study,among which 42 cases were sepsis in paediatric intensive care unit (sepsis group),20 cases had finished the cardiopulmonary bypass surgery without infection (surgery group).Sixty healthy children served as control group.Serum levels of GH and IGF-Ⅰ were deteced with immunochemiluminometric assay.Results The serum levels of GH were (6.71 ± 6.62) ng/ml in sepsis group,(8.86 ±8.06) ng/ml in surgery group,(3.87 ± 3.31) ng/ml in control group.Compared with the control group,the serum levels of GH in sepsis group and surgery group were increased significantly (P ＜ 0.05).There was no significant difference between sepsis group and surgery group.The serum IGF-Ⅰ levels were (63.72 ±54.17) ng/ml in sepsis group,(119.06 ± 102.12) ng/ml in surgery group and(154.22 ± 107.10) ng/ml in control group separately.The serum IGF-Ⅰ level of sepsis group was significantly decreased compared to the other two groups (P ＜ 0.05).There was no significant difference between surgery group and control group (P ＞0.05).In sepsis group,compared with those who died,the GH of the survival showed no significant difference,IGF-Ⅰ was significantly increased.(P ＜ 0.05).Conclusion GH playes a positive effect in patients with critical disease.IGF-Ⅰ decreases greatly in patients with serious infection.It suggests that IGF-Ⅰ could be a sensitive marker for reflecting whether there is serious infection.The sharply decreasing of IGF-Ⅰ may predict a bad outcome.