Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The - Contiguous Gene Duplication Syndrome

The genomic duplication associated with Potocki-Lupski syndrome (PTLS) maps in close proximity to the duplication associated with Charcot-Marie-Tooth disease type 1A (CMT1A). PTLS is characterized by hypotonia, failure to thrive, reduced body weight, intellectual disability, and autistic features. CMT1A is a common autosomal dominant distal symmetric peripheral polyneuropathy. The key dosage-sensitive genes RAI1 and PMP22 are respectively associated with PTLS and CMT1A. Recurrent duplications accounting for the majority of subjects with these conditions are mediated by nonallelic homologous recombination between distinct low-copy repeat (LCR) substrates.

Source: The American Journal of Human Genetics - November 5, 2015 Category: Genetics & Stem Cells Authors: Bo Yuan, Tamar Harel, Shen Gu, Pengfei Liu, Lydie Burglen, Sandra Chantot-Bastaraud, Violet Gelowani, Christine R. Beck, Claudia M.B. Carvalho, Sau Wai Cheung, Andrew Coe, Valérie Malan, Arnold Munnich, Pilar L. Magoulas, Lorraine Potocki, James R. Tags: Article Source Type: research