The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.
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SUBMITTER: Dasouki MJ
PROVIDER: S-EPMC3312009 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
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The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.
Dasouki Majed J MJ Lushington Gerald H GH Hovanes Karine K Casey James J Gorre Mereceds M
American journal of medical genetics. Part A 20110527 7
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, t ...[more]
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