Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

• Published in: Global medical genetics Vol. 11; no. 1; pp. 100 - 112
• Main Authors: Kelkar, Janhawi, DiMaio, Miriam, Ma, Deqiong, Zhang, Hui
• Format: Journal Article
• Language: English
• Published: Germany Elsevier B.V 01.01.2024; Georg Thieme Verlag KG; KeAi Communications Co., Ltd
• Subjects: chromosome 2 uniparental disomy; genomic imprinting; Review; sepiapterin reductase deficiency; chromosome 2 uniparental disomy; sepiapterin reductase deficiency; genomic imprinting

We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142. Biallelic pathogenic variants in SPR lead to sepiapterin reducta...