Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia

ConclusionThe nonsense pathogenic variant, NM_172250.2:c.742C>T (p.Gln248*), carried by the patient leads to a premature termination of transcription of the gene, thereby resulting in partial loss of protein function while retaining some others. Segmental UPD 4 is rare, and to our knowledge, has not been reported previously.

Source: Molecular Genetics & Genomic Medicine - December 1, 2019 Category: Genetics & Stem Cells Authors: Min Chen, Hu Hao, Hui Xiong, Yao Cai, Fei Ma, Congcong Shi, Xin Xiao, Sitao Li Tags: CLINICAL REPORT Source Type: research