Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and intellectual disability. We analyzed an Indian family with two affected siblings by exome sequencing and identified a novel homozygous truncating mutation in the Neuroblastoma-Amplified Sequence (NBAS) gene in the patients' genome. Mutations in the NBAS gene have recently been associated with different phenotypes mainly involving skeletal formation, liver and cognitive development.

Source: Bone - June 18, 2018 Category: Orthopaedics Authors: Eleonora Palagano, Giulia Zuccarini, Paolo Prontera, Renato Borgatti, Gabriela Stangoni, Sandro Elisei, Stefano Mantero, Ciro Menale, Antonella Forlino, Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Giorgio R. Merlo, Cristina Sobacchi Tags: Full Length Article Source Type: research