Genetics in KS Sample Clauses

Genetics in KS. 4.1.3.1 MIXED LINEAGE LEUKEMIA 2 GENE (MLL2) The first association of KS with a genetic mutation was made in 2010 when, following WES of 10 unrelated patients, nonsense or frameshift mutations in the MLL2 gene, on chromosome 12q12-14, were identified in seven (Xx et al. 2010). MLL2 is the paralog of MLL1 (associated with chromosomal rearrangements in acute myeloid, myeloblastic and lymphatic leukaemia); a product of a gene duplication process. The name MLL (mixed lineage leukaemia) originates from its association to the pathogenesis of leukaemia (Ziemin-van der Poel et al. 1991, Xxxxxxx et al. 1992). MLL2 consists of 54 coding exons and encodes the histone H3 lysine 4 specific methyltransferase. Subsequent Sanger sequencing detected mutations in MLL2 in 2 of the 3 remaining individuals out of the initial 10 patients with KS and in 26 of 43 additional cases (Xx et al. 2010). In twelve KS patients, where parental DNA was available and tested, mutations in MLL2 were detected in only two families. Overall, 33 To date, 247 mutations in MLL2 have been described in KS patients (Table 18). All mutations described are heterozygous with the majority being truncating. They thus appear to behave in a dominant fashion. Overall, the most common mutation types identified were nonsense (164) and frameshift (88). Of interest is that the majority of mutations described are de novo with only four families identified to have proven mutations in more than one family member. This could reflect the lack of ancestral DNA availability to facilitate further testing within families or a possible reduced fertility status (Xxxxxxxx et al. 2011, Xx et al. 2011, Xxxxxx et al. 2011, Xxxxxxxxx et al. 2011, Xxxxx et al. 2012, Xxxxxxx-Xxxxxx et al. 2012, Xxxxxxxxxxxx and Xxxxxxx 2013, Xxxxxxxxxxxxx et al. 2013, Xxxxxx et al. 2013, Xxxxxxx et al. 2014). Xxxxxxxxx et al 2011 45/34/27 11 17 2 4 Xx et al 2011 34/18/11 3 6 7 2 Xxxxxx et al 2011 65/42/38 17 13 7 3/3 Xxxxxxxx et al 2011 110/81/25 37 22 16 3/3 Banka et al 2012 116/74/7 25 30 9 10 Kokitsu-Nakata et al 2012 2/1/none - - 1 - Xxxxxx et al 2012 2/2/none 1 - 1 - Xxxxxxxxxxxxx et al 2013 86/45/34 31 - 10 4 Xxxxxx et al 2013 81/50/35 35 Xxxxxxx et al 2014 18/10/none 4 4 2 - Table 18: Number of mutations in MLL2 reported in the literature. Mutations are categorised as de novo, nonsense, frameshift, missense, splice site and indels. MLL2 is a large, 5,262-amino acid protein, containing a “Drosophila Su3-9 Enhancer of zeste” (SET) domain, fiv...
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