Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome
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Altieri Filomena, Turco ELISA MARIA, Vinci Ersilia, Torres Barbara, Ferrari Daniela, DE JACO Antonella, Mazzoccoli Gianluigi, Lamorte Giuseppe, Nardone Annamaria, Della Monica Matteo, Bernardini Laura, Luigi Vescovi Angelo, Rosati Jessica Diana
ISSN: 1876-7753
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural
problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing
retinoic acid induced1 (RAI1) gene, 10% are due to heterozygousmutations affecting RAI1 coding region.
Little is known about RAI1 role.