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3 results on '"Pio Adamo D′Adamo"'

1. Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

Author

Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi, and Pio Adamo d’Adamo

Subjects
RSK2 gene, Coffin–Lowry syndrome, intellectual disability, kinase assay, functional assay, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features. Methods: In the present study, an unreported missense genetic variant of the ribosomal S6 kinase 2 (RSK2) gene has been identified, by next-generation sequencing, in two related males with two different phenotypes of intellectual disability (ID) and peculiar facial dysmorphisms. We performed functional studies on this variant and another one, already reported in the literature, involving the same amino acid residue but, to date, without an efficient characterization. Results: Our study demonstrated that the two variants involving residue 189 significantly impaired its kinase activity. Conclusions: We detected a loss-of-function RSK2 mutation with loss in kinase activity in a three-generation family with an X-linked ID.

Published
2021
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2. Congenital lung malformations

Author

Pederiva, Federica, Rothenberg, Steven S., Hall, Nigel, Ijsselstijn, Hanneke, Wong, Kenneth K. Y., von der Thüsen, Jan, Ciet, Pierluigi, Achiron, Reuven, Pio d’Adamo, Adamo, and Schnater, J. Marco

Published
2023
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3. TBL1Y: a new gene involved in syndromic hearing loss

Author

Paolo Gasparini, Michael P. Myers, Anna Morgan, Pio Adamo D′Adamo, Wei Liu, Diego Vozzi, Mauro Giacca, Giorgia Girotto, Chiara Collesi, Elisa Rubinato, Mariateresa Di Stazio, DI STAZIO, Mariateresa, Collesi, Chiara, Vozzi, Diego, Liu, Wei, Myers, Mike, Morgan, Anna, D'Adamo, ADAMO PIO, Girotto, Giorgia, Rubinato, Elisa, Giacca, Mauro, and Gasparini, Paolo

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, TBL1X, Hearing loss, Mutation, Missense, TBL1Y, Cochlea, Y-linked Disease, Syndromic hearing loss, Prostatic hyperplasia, Biology, medicine.disease_cause, Article, 03 medical and health sciences, Genetics, medicine, Homologous chromosome, Missense mutation, Humans, Transducin, Hearing Loss, Gene, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, 0303 health sciences, Mutation, Protein Stability, 030305 genetics & heredity, Syndromic hearing lo, Prostate, Genetic Diseases, Y-Linked, Syndrome, Middle Aged, Pedigree, Medical genetics, Female, medicine.symptom
Abstract

Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.

Published
2019

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