Sara Bertuzzo
7 Papers
8 Citations
Sara Bertuzzo is an academic researcher. The author has contributed to research in topics: Haploinsufficiency & Microcephaly. The author has an hindex of 3, co-authored 7 publications.
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Papers
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
Nehir Edibe Kurtas,Filippo Arrigoni,Edoardo Errichiello,Claudio Zucca,Cristina Maghini,Maria Grazia D'Angelo,Silvana Beri,Roberto Giorda,Sara Bertuzzo,Massimo Delledonne,Luciano Xumerle,Marzia Rossato,Orsetta Zuffardi,Maria Clara Bonaglia +13 more
TL;DR: The data suggest that SHANK3 haploinsufficiency and TCF20 misregulation, both associated with intellectual disability, contributed to the patient’s NDD, while NFAM1 interruption likely caused her skin rashes, as previously reported.
De novo unbalanced translocations have a complex history/aetiology.
Maria Clara Bonaglia,Nehir Edibe Kurtas,Edoardo Errichiello,Sara Bertuzzo,Silvana Beri,Mana M. Mehrjouy,Aldesia Provenzano,Debora Vergani,Vanna Pecile,Francesca Novara,Paolo Reho,Marilena Carmela Di Giacomo,Giancarlo Discepoli,Roberto Giorda,Micheala A. Aldred,Cíntia Barros Santos-Rebouças,Andressa Pereira Gonçalves,Diane N Abuelo,Sabrina Giglio,Ivana Ricca,Fabrizia Franchi,Philippos C. Patsalis,Carolina Sismani,María Ángeles Mori,Julián Nevado,Niels Tommerup,Orsetta Zuffardi +26 more
TL;DR: The findings indicate that the primary driver for the occurrence of the de novo unbalanced translocations is a maternal meiotic non-disjunction, followed by partial trisomy rescue of the supernumerary chromosome present in the trisomic zygote.
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
Maria Clara Bonaglia,Sara Bertuzzo,Anna Maria Ciaschini,Giancarlo Discepoli,Lucia Castiglia,Romina Romaniello,Orsetta Zuffardi,Marco Fichera +7 more
TL;DR: This study confirms the usefulness of the molecular mapping of de novo balanced rearrangements in symptomatic individuals, but also underscores the need for long-term clinical evaluation of the patients, for better evaluating the pathogenicity of the chromosomal breakpoints.
Partial deletion of DEPDC5 in a child with focal epilepsy.
Maria Clara Bonaglia,Roberto Giorda,Roberta Epifanio,Sara Bertuzzo,Susan Marelli,Marion Gérard,Joris Andrieux,Nicoletta Zanotta,Claudio Zucca +8 more
- 01 Dec 2016
TL;DR: The phenotypic spectrum of DEPDC5 is expanded to sporadic forms of focal idiopathic epilepsy and underscores the fact that partial deletions, albeit probably very rare, are part of the genetic spectrum of DeP domain‐containing protein 5 mutations.
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Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome
Marco Fichera,Lucia Saccuzzo,Sara Bertuzzo,Susan Marelli,Anna Cavallini,Romina Romaniello,Mirjana Kocova,Andrea Citterio,Isabella Fanizza,Antonio Trabacca,Angelica Pagliazzi,Silvia Guarducci,Sabrina Giglio,Orsetta Zuffardi,Maria Clara Bonaglia +14 more
- 18 Jun 2020
TL;DR: To overcome the problem of incomplete penetrance, an algorithm is developed that is applied to the deletion region 1q23.3-q25, which contains three SROs, each contributing to the abnormal phenotype without clearly distinguishing between the different malformations.