Work

The 3q29 microdeletion syndrome: Report of three new unrelated patients and in silico “RNA binding” analysis of the 3q29 region

Year: 2011

Type: article

Abstract: The human 3q29 microdeletion syndrome is associated with mild facial dysmorphism, developmental delay and variable congenital malformations. We report three new unrelated patients with this syndrome. We also performed in silico RNA binding analysis in silico on the 3q29 critical region genes. Several genes within this genomic region including DLG1 and RNF168 are predicted to bind RNA. While recessive mutations in RNF168 cause RIDDLE syndrome, an immune deficiency and radiosensitivity disorder, the potential impact of heterozygous deletion of RNF168 on patients with the 3q29 deletion syndrome is still unknown.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.34080

Authors: Majed J. Dasouki, Gerald H. Lushington, Karine Hovanes, James Casey, Mereceds Gorre

Institution: University of Kansas Medical Center

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute of General Medical Sciences