Anne-Sophie Lia

TL;DR: To investigate the role of genomic sequences in instability, transgenic mice containing a 45-kb genomic segment with a 55-CTG repeat cloned from a mildly affected patient showed both intergenerational and somatic repeat instability.

TL;DR: There is a tendency for repeat length and somatic mosaicism to increase with the age of the mouse and the somatic mutation rates in different tissues were not correlated to the relative inter-tissue difference in transcriptional levels of the three genes surrounding the repeat.

TL;DR: A significant proportion of triplet associated genes or fragile sites found a CpG island close to the trinucleotide repeat, leading to the assumption that flanking regions and chromatin structure near the triplets might play a role in repeat instability.

TL;DR: The work of the French National Network for Rare Neuromuscular Diseases (FILNEMUS) genetic diagnosis section is presented which coordinates the seven French diagnosis laboratories using NGS for peripheral neuropathies and establishes a unique consensus gene list for NSIPN.

TL;DR: The phenotypic spectrum of HINT1‐related neuropathy is expanded by describing neurodevelopmental or psychiatric features in six out of seven individuals such as generalized anxiety disorder (GAD), obsessive–compulsive disorder (OCD), mood disorder and attention deficit hyperactivity disorder (ADHD).