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Causative Gene Identification - Crossref

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Last Updated: 13 July 2022

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Abstract 3814: Exome sequencing for identification of causative genes for mosaic variegated aneuploidy.

Abstract Mosaic Variegated Aneuploidy is a rare autosomal recessive disorder associated with increased birth deficiency, microcephaly, intellectual impairment, seizures of the central nervous system, mild physical abnormalities, and predominant cancer. Wilms tumor, rhabdomyosarcoma, and leukemia were among the 37 confirmed cases of MVA. MVA patients' cells show variable whole chromosome loss and gains, indicating underlying chromosome segregation defect. In some MVA patients, biallelic loss-of-function mutations in the mitotic spindle-assembly checkpoint gene BUB1B or a centrosomal microtubule stabilizing gene CEP57 have been found in biallelic loss-of-function mutations. One patient has been identified with MVA, myelodysplasia, and acute myeloid leukemia. In this patient, normal BUB1B and CEP57 were found by a cellular sequence analysis. In AIM1, EPS15, MICALL2 and ZSCAN12, four putative genes with biallelic mutations were found in Exome data analysis, using an autosomal recessive model and Sanger sequencing, identifying four putative genes with biallelic mutations. We created cellular and functional assays using patient skin fibroblasts to further investigate these potential loci in our MVA patient. We have recapitulated the aneuploidy phenotype in the patient skin fibroblasts using interphase-FISH analysis. In addition, the patient fibroblasts had an elevated incidence of binucleated and micronucleated progeny in addition to abnormal chromosome segregation and cytokinesis. In summary, exome sequencing revealed a tiny number of potential causal genes as the etiology of MVA in our patient.

Source link: https://doi.org/10.1158/1538-7445.am2013-3814

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions