Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability

Liu, Jing; Chen, Baiyun; Liu, Yuchun; Kong, Jinghui; Zhang, Bo; Liu, Han; Mei, Di; Cui, Yun; Shang, Qing; Xie, Zhenhua; Xiao, Mengjun; Mei, Shiyue; Zhang, Yaodong; Gao, Chao; Li, Dongxiao

doi:10.1016/j.ejmg.2022.104554

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2023

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“…The four main formation mechanisms of UPD are often described as monosomic rescue, trisomic rescue, postfertilization division errors, and gamete complementation [ 5 , 14 ]. UPD can sometimes cause homozygous mutations in recessive genes or imprinted gene expression disorders, leading to serious clinical consequences such as rib dysmorphism, mental retardation, or short stature [ 16 – 18 ]. So far, UPD has been reported on almost all chromosomes.…”

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confidence: 99%

Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction

Tan,

Liu,

Yan

et al. 2023

Mol Cytogenet

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Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, we report two cases of UPD for chromosome 2 (UPD2) encountered during prenatal diagnosis. The ultrasound findings of the fetuses from two unrelated families showed intrauterine growth restriction. The karyotype analyses were normal. The two fetuses both had complete paternal chromosome 2 uniparental disomy detected by whole-exome sequencing, but their clinical outcomes were significantly different, with fetal arrest in case 1 and birth in case 2. In this report, we analyzed and discussed the phenotypes of the fetuses in these two cases and reviewed the literature on UPD2.

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