Novel deletion imprinting region14q32.2 in a patient with Kagami-Ogata syndrome

The human chromosome region 14q32 contains a number of imprinted genes that are expressed either from the paternal or from the maternal alleles. Genetic alterations of these genes lead to distinct phenotypes, known as maternal uniparental disomy 14 (Temple syndrome ОMIM #616222) or paternal uniparental disomy 14 (Kagami-Ogata syndrome ОMIM# 608149). Kagami-Ogata syndrome characterizes by a small bell-shaped thorax with a coat-hanger configuration of the ribs, abdominal wall defects, joint contractures and polyhydramnios during the pregnancy. In both syndromes, three types of molecular alterations have been reported: uniparental disomy 14, deletions and epimutations. Most described deletions in previous articles included one or both of the differentially methylated regions: DLK1 and MEG3. In contrast to uniparental disomy and epimutations, deletions affecting regulatory elements in 14q32.2 are associated with a high-recurrence risk. Patients and Methods. We present clinical case Kagami-Ogata syndrome is caused deletion 14q32.2. We performed microsatellite analysis of trio and microarray analysis of the mother. Results. Microsatellite analysis of trio and microarray analysis of mother have allowed to define the extent of deletions (378 kb) affecting the regions 14q32.2-14q32.1, including genes (MEG3, RTL1, MEG8) that are expressed from the maternal allele and do not affect the IG-DMR. We performed a comparative analysis of patient’s phenotypes, described earlier, with different deletions involving IG-DMR and MEG3-DMR. Conclusion. Analysis of deletions origin, as well as its included genes, in the diagnosis of diseases allows making an accurate diagnosis and using the methods of prenatal and/or preimplantation diagnostics in patients with a high risk of hereditary pathology.

синдром Кагами-Огата, однородительская дисомия 14, делеция 14q32.2, Kagami-Ogata syndrome, paternal uniparental disomy 14, deletion 14q32.2

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