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A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.

Bone - 1 Dec 2021

Palagano Eleonora, Gordon Christopher T, Uva Paolo, Strina Dario, Dimartino Clémantine, Villa Anna, Amiel Jeanne, Guion-Almeida Maria L, Vendramini-Pittoli Siulan, Kokitsu-Nakata Nancy M, Zechi-Ceide Roseli M, Sobacchi Cristina

Abstract excerpt

Acrofrontofacionasal dysostosis type 1 (AFFND1) is an extremely rare disorder characterized by several dysmorphic features, skeletal abnormalities and intellectual disability, and described only in seven patients in the literature. A biallelic variant in the Neuroblastoma Amplified Sequence (NBAS) gene was recently identified in two Indian patients with AFFND1. Here we report genetic investigation of AFFND1 in...

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PMID: 34400385
DOI: 10.1016/j.bone.2021.116152

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