Person:
Bel Fenellos, María Cristina

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First Name
María Cristina
Last Name
Bel Fenellos
URI
https://hdl.handle.net/20.500.14352/77134
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Educación-Centro Formación Profesor
Department
Investigación y Psicología en Educación
Area
Psicología Evolutiva y de la Educación
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Author: Blanco Lago, Raquel × Subject: 37.015.3 ×

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    Variability in Phelan-McDermid syndrome in a cohort of 210 Individuals
    (Frontiers in Genetics, 2022) Nevado Blanco, Julián; García Miñaúr, Sixto; Palomares Bralo, María; Vallespín, Elena; Guillén Navarro, Encarna; Rosell, Jordi; Bel Fenellos, María Cristina; Mori, María Ángeles; Milá, Montserrat; del Campo, Miguel; Barrúz, Pilar; Santos Simarro, Fernando; Obregón, Gabriela; Orellana, Carmen; Pachajoa, Harry; Tenorio, Jair Antonio; Galán, Enrique; Cigudosa, Juan C.; Moresco, Angélica; Saleme, César; Castillo, Silvia; Gabau, Elisabeth; Pérez Jurado, Luis; Barcia, Ana; Martín, María Soledad; Mansilla, Elena; Vallcorba, Isabel; García Murillo, Pedro; Cammarata Scalisi, Franco; Gonçalves Pereira, Natálya; Blanco Lago, Raquel; Serrano, Mercedes; Ortigoza Escobar, Juan Dario; Gener, Blanca; Seidel, Verónica Adriana; Tirado, Pilar; Lapuniza, Pablo
    Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures. Clinically, patients with PMS often present with global developmental delay, absent or severely delayed speech, neonatal hypotonia, minor dysmorphic features, and autism spectrum disorders (ASD), among other findings. Here, we describe a cohort of 210 patients with genetically confirmed PMS. We observed multiple variant types, including a significant number of small deletions (<0.5 Mb, 64/189) and SHANK3 sequence variants (21 cases). We also detected multiple types of rearrangements among microdeletion cases, including a significant number with post-zygotic mosaicism (9.0%, 17/189), ring chromosome 22 (10.6%, 20/189), unbalanced translocations (de novo or inherited, 6.4%), and additional rearrangements at 22q13 (6.3%, 12/189) as well as other copy number variations in other chromosomes, unrelated to 22q deletions (14.8%, 28/189). We compared the clinical and genetic characteristics among patients with different sizes of deletions and with SHANK3 variants. Our findings suggest that SHANK3 plays an important role in this syndrome but is probably not uniquely responsible for all the spectrum features in PMS. We emphasize that only an adequate combination of different molecular and cytogenetic approaches allows an accurate genetic diagnosis in PMS patients. Thus, a diagnostic algorithm is proposed.