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

Autor: Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera

Publikováno v: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-8 (2020)

Abstract Background It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a disease gene or its cis

Externí odkaz: https://doaj.org/article/35fd16790adc46e8a865fc9511e50a52

De novo unbalanced translocations have a complex history/aetiology

Autor: Roberto Giorda, Maria Clara Bonaglia, Philippos C. Patsalis, Debora Vergani, Diane N Abuelo, María Ángeles Mori, Marilena Carmela Di Giacomo, Julián Nevado, Fabrizia Franchi, Vanna Pecile, Mana M. Mehrjouy, Giancarlo Discepoli, Carolina Sismani, Andressa Pereira Gonçalves, Sabrina Giglio, Silvana Beri, Ivana Ricca, Francesca Novara, Micheala A. Aldred, Paolo Reho, Edoardo Errichiello, Aldesia Provenzano, Cíntia Barros Santos-Rebouças, Sara Bertuzzo, Nehir Edibe Kurtas, Orsetta Zuffardi, Niels Tommerup

Publikováno v: Bonaglia, M C, Kurtas, N E, Errichiello, E, Bertuzzo, S, Beri, S, Mehrjouy, M M, Provenzano, A, Vergani, D, Pecile, V, Novara, F, Reho, P, Di Giacomo, M C, Discepoli, G, Giorda, R, Aldred, M A, Santos-Rebouças, C B, Goncalves, A P, Abuelo, D N, Giglio, S, Ricca, I, Franchi, F, Patsalis, P, Sismani, C, Morí, M A, Nevado, J, Tommerup, N & Zuffardi, O 2018, ' De novo unbalanced translocations have a complex history/aetiology ', Human Genetics, vol. 137, no. 10, pp. 817-829 . https://doi.org/10.1007/s00439-018-1941-9
Human Genetics

We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal portion of another chromosome or its opposite end was transposed. Array

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd55101cee263e3348aa601fc46068a
https://doi.org/10.1007/s00439-018-1941-9

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

Autor: Nehir Edibe Kurtas, Silvana Beri, Luciano Xumerle, Edoardo Errichiello, Filippo Arrigoni, Cristina Maghini, Maria Clara Bonaglia, Marzia Rossato, Orsetta Zuffardi, Claudio Zucca, Roberto Giorda, Sara Bertuzzo, Maria Grazia D'Angelo, Massimo Delledonne

Publikováno v: Journal of Medical Genetics

IntroductionPhelan-McDermid syndrome (PMS) is caused bySHANK3haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to addition

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af7a82e0472b368ca1881cedcae7c52
http://hdl.handle.net/11562/977816

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3

Autor: Roberto Giorda, Maria Clara Bonaglia, Anna Baroncini, Rita Quarantini, Paolo Ricciardelli, Sara Bertuzzo

Publikováno v: Molecular Cytogenetics

Background A novel multiple congenital anomalies syndrome has been recently identified in four patients carrying a 8q12 microduplication sharing the smallest region of overlap (SRO, size 1.6 Mb) including five genes CA8, ASPH, RAB2B, CLVS1 and CDH7.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef607185779d9885630fbd2d53913d7e
http://europepmc.org/articles/PMC4176195