tag:blogger.com,1999:blog-2186593343917545414.post4314491142836916819..comments2024-03-10T12:29:30.004-07:00Comments on pediatric neurology: CHD2 mutationsGalen Breningstall, MDhttp://www.blogger.com/profile/07170864203251456228noreply@blogger.comBlogger2125tag:blogger.com,1999:blog-2186593343917545414.post-79634281711697882082017-04-05T21:15:29.715-07:002017-04-05T21:15:29.715-07:00Thank you for this information. I'm looking fo...Thank you for this information. I'm looking for information on a CHD2 variant 4636C7t deletion. Anonymoushttps://www.blogger.com/profile/11451921598365007463noreply@blogger.comtag:blogger.com,1999:blog-2186593343917545414.post-41039981158172007252016-10-05T10:38:18.637-07:002016-10-05T10:38:18.637-07:00See https://childnervoussystem.blogspot.com/2016/0...See https://childnervoussystem.blogspot.com/2016/07/chd2-mutations.html<br /><br />The patient who inspired this post is heterozygous for a novel variant in the CHD2 gene (c.362 G>T,pArg121Leu). This variant was not observed in approximately 6500 individuals of European and African-American ancestry in the NHLB1 exome sequencing project. The R121L variant is a nonconservative amino acid substitution, which is likely to impact secondary protein structure, as these residues differ in polarity, charge, size and/or other properties. The substitution occurred at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to protein structure/function. The report from this study indicates, "The pathogenic role of this missense change would be further supported if it had occurred de novo or cosegregates with the phenotype in the family." Parental testing for the CHD2 variant was recommended.<br /><br />Parental testing was done. Alas, the father has the same CHD2 variant.Galen Breningstall, MDhttps://www.blogger.com/profile/07170864203251456228noreply@blogger.com