Montpellier University Hospital

Laboratory of molecular genetics: deafness and blindness team

Group :
  • Anne-françoise Roux , Pharm.D, Ph.D, HDR, PH
  • Valérie Faugère
  • Melody Moclyn
  • Corinne Baudoin
  • Christel Vaché, Ph.D
  • David Baux
Molecular Diagnosis : Molecular Biology :
  • Illumina sequencing: 152 genes custom panel
  • Use of Illumina Nextera, NimbleGen SeqCap, Agilent SureSelect and SureSelect QXT for library preparation
  • Exomes and clinical exomes analysis
  • HRM (High Resolution Melting)
  • SNaPshot® Multiplex system
  • QMPSF (Quantitative Multiplex PCR of Short Fluorescent Fragments)
  • MLPA® (Multiplex Ligation-dependent Probe Amplification)
  • Array-CGH (Comparative Genomics Hybridization)
  • transcripts analysis (RNA, minigenes)
Bioinformatics :
  • LSDBs dedicated to Usher syndrome     
  • We belong to the MoBiDiC group
  • Development of USMA (Usher Syndrome Missense Analysis), an online tool which aims at facilitating missense interpretation
  • Development of USHVaM and of the new system USHVaM2, our own private LSDB system (source code available upon request, slide show)
  • Development of Nenufaar, a custom DNA NGS pipeline, running under SLURM at HPC@LR and in the lab
  • Visit our GitHub page!
the team in 2016.
In 2010, datation of the most common USH2A mutation (about 6,500 years, Aller et al., 2010).
Still in 2010 Relevancy of the use of nasal cells to study the Usher transcripts (Vaché et al., 2010).
In 2012, genotype/phenotype correlations in Usher type II patients (Abadie et al., 2012).
2012, first deep-intronic mutation leading to pseudo-exon insertion in an Usher gene. (Vaché et al., 2012).
In 2014 ,feasibility of the molecular diagnosis of Usher using NGS. (Besnard, García-García, Baux et al., 2014).
Missense variants extracted from LOVD-USHbases plotted against Fibronectin type III domains of usherin (USH2A gene, Baux et al., 2014).
In 2015, NGS to perform a full-gene sequencing of USH2A (800kb) to identify new deep intronic mutations (Liquori et al., 2015).
In 2016 we compared 3 different enrichment methods used in NGS (García-García, Baux et al., 2016).
In 2017 we established a diagnostic yield of 48% for deafness (Baux, Vaché et al., 2017).
2018, descirption of atypical variants in CHM (Vaché et al., 2018).