Fiche publication
Date publication
octobre 2020
Journal
Brain sciences
Auteurs
Membres identifiés du Cancéropôle Est :
Pr KUENTZ Paul
Tous les auteurs :
Trajkova S, Di Gregorio E, Ferrero GB, Carli D, Pavinato L, Delplancq G, Kuentz P, Brusco A
Lien Pubmed
Résumé
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, (parietal foramina), (multiple exostoses), and (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved. We found 23 full PSS cases (, and ), 14 cases with , and three with only. Among the latter, we describe a novel male child showing developmental delay, café-au-lait spots, liner postnatal overgrowth and West-like epileptic encephalopathy. We suggest PSS cases may have epileptic spasms early in life, and is likely to be the causative gene. Given their subtle presentation these may be overlooked and if left untreated could lead to a severe type or deterioration in the developmental plateau. If our hypothesis is correct, a timely therapy may ameliorate PSS phenotype and improve patients' outcomes. Our analysis also shows is a candidate for the overgrowth phenotype.
Mots clés
LSD-CoREST, PHF21A, Potocki-Shaffer, SCNA, epileptic encephalopathy, infantile spasms, intellectual disability, west syndrome
Référence
Brain Sci. 2020 10 28;10(11):
