There has been sufficient amount of evidence published associating the MSH2 gene with constitutional mismatch repair deficiency syndrome - a distinct disorder from the dominant Lynch syndrome - since the gene-disease relationship was first proposed by Whiteside D, et al., (2002). Multiple case level studies have been performed with cMMRD syndrome patients that have variants in the MSH2 gene. Other mismatch repair (MMR) genes MLH1, MSH6 and PMS2 also causes constitutional mismatch repair deficiency syndrome. RNA and Immunoblotting demonstrate a lack of MSH2 protein in patient cells. Multiple MSH2 deficient mouse and zebrafish models have been established to show consistent phenotypes with cMMRD patients by developing neurofibromas and lymphoid tumors. There is sufficient evidence consistent with a definitive relationship between the MSH2 gene and constitutional mismatch repair deficiency syndrome.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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