Apparently balanced chromosomal rearrangements (ABCR) are associated with an abnormal phenotype in 6 % of cases. This may be due to the disruption of genes at the breakpoint. However, conventional methods of breakpoint cloning are laborious and time-consuming. Here, we used whole-genome next-generation sequencing (NGS) to rapidly locate breakpoints at the molecular level in four patients with multiple congenital abnormalities and\/or intellectual deficiency that were carrying ABCR (1 translocation, 1 complex chromosomal rearrangement and 2 inversions).<\/p>\n
We were able to map all the breakpoints. We showed that five genes were disrupted (TCF4<\/i>, SHANK2<\/i>, PPFIA1<\/i>, RAB19<\/i>, KCNQ1<\/i>), that could account for the phenotype in three patients.<\/p>\n
So, we suggest that patients with ABCR and abnormal phenotype should be investigated by NGS. (By Dr Caroline Schluth-Bolard, http:\/\/jmg.bmj.com\/content\/early\/2013\/01\/11\/jmedgenet-2012-101351<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":" Apparently balanced chromosomal rearrangements (ABCR) are associated with an abnormal phenotype in 6 % of cases. This may be due to the disruption of genes at the breakpoint. However, conventional methods of breakpoint cloning are laborious and time-consuming. Here, we used whole-genome next-generation sequencing (NGS) to rapidly locate breakpoints at the molecular level in four […]<\/p>\n