Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p244 | Genetics and Epigenetics | ECTS2016

NBAS is the gene mutated in two patients affected by Acrofrontofacionasal Dysostosis type 1

Palagano Eleonora , Zuccarini Giulia , Mantero Stefano , Conte Daniele , Angius Andrea , Uva Paolo , Prontera Paolo , Vezzoni Paolo , Villa Anna , Merlo Giorgio , Sobacchi Cristina

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

ba0003cc1 | (1) | ECTS2014

Molecular diagnosis of osteopetrotic patients with atypical presentations using traditional approaches and exome sequencing

Palagano Eleonora , Pangrazio Alessandra , Strina Dario , Puddu Alessandro , Oppo Manuela , Valentini Maria , Vezzoni Paolo , Villa Anna , Sobacchi Cristina

Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...