0000000000447686
AUTHOR
Nicolas Gruchy
showing 3 related works from this author
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
DLG4-related synaptopathy: a new rare brain disorder
2021
Contains fulltext : 245031.pdf (Publisher’s version ) (Closed access) PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants. METHODS: The clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing. RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit-hyp…
Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS
2020
National audience; La PseudoHypoParathyroïdie de type 1A (PHP1A) et la PseudoPseudoHypoparathyroïdie (PPHP) sont deux maladies rares à transmission autosomique dominante provoquées par des mutations perte de fonction du gène GNAS soumis à empreinte, codant la protéine Gsα. La PHP1A est causée par des mutations sur l’allèle maternel et entraîne une Ostéodystrophie Héréditaire d’Albright (AHO) et une résistance à la PTH, tandis que la PPHP avec AHO et sans résistance hormonale est liée à des mutations de l’allèle paternel. Cette étude visait à étudier la transmission des mutations de GNAS. Nous avons mené une étude rétrospective sur un grand nombre de familles mutées GNAS. Pour éviter un biai…