Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin

Abstract

Background Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling. Results Here, we report a newborn with congenital heart disease and developmental delay who inherited ring chromosome 6 [46,XY,r(6)(p25q27)mat] from a phenotypically normal mother. Genotypes and phenotypes were analysed by molecular cytogenetic analysis, whole-exome sequencing and literature review. Conclusions Our study showed that the pathogenicity of the ring chromosome abnormality [r(6)(p25q27)] was mainly affected by chromosome imbalance, deletions of genes with haploinsufficiency, duplications of genes with triple sensitivity, parental inheritance of the imbalance and the imprinting status of the affected genes.

U2AF1 in various neoplastic diseases and relevant targeted therapies for malignant cancers with complex mutations (Review)

“…Heterozygous somatic mutations in splicing factor genes (SF3B1, SRSF2, U2AF1 and ZRSR2) occur in >50% of all patients with MDS ( 25 – 29 ), with U2AF1 mutations ranging from 7–11% and having the highest incidence in AML and the worst prognosis among the four mutations ( 30 , 31 ). Structural changes caused by mutations in U2AF1 occur in two hotspots-S34 and Q157-in the first and second zinc finger domains, as illustrated in Fig.…”