{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:21:53Z","timestamp":1760149313080,"version":"build-2065373602"},"reference-count":44,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T00:00:00Z","timestamp":1690761600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypotonia, and an increased risk for cerebrovascular disease and insulin resistance. Autosomal recessive biallelic loss-of-function genomic variants in the centrosomal pericentrin (PCNT) gene on chromosome 21q22 cause MOPDII. Over the past decade, exome sequencing (ES) and massive RNA sequencing have been effectively employed for both the discovery of novel disease genes and to expand the genotypes of well-known diseases. In this paper we report the results both the RNA sequencing and ES of three patients affected by MOPDII with the aim of exploring whether differentially expressed genes and previously uncharacterized gene variants, in addition to PCNT pathogenic variants, could be associated with the complex phenotype of this disease. We discovered a downregulation of key factors involved in growth, such as IGF1R, IGF2R, and RAF1, in all three investigated patients. Moreover, ES identified a shortlist of genes associated with deleterious, rare variants in MOPDII patients. Our results suggest that Next Generation Sequencing (NGS) technologies can be successfully applied for the molecular characterization of the complex genotypic background of MOPDII.<\/jats:p>","DOI":"10.3390\/ijms241512291","type":"journal-article","created":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T09:06:44Z","timestamp":1690880804000},"page":"12291","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II"],"prefix":"10.3390","volume":"24","author":[{"given":"Flaviana","family":"Marzano","sequence":"first","affiliation":[{"name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, IBIOM\u2013CNR, 70126 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3983-4961","authenticated-orcid":false,"given":"Matteo","family":"Chiara","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milan, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3768-6352","authenticated-orcid":false,"given":"Arianna","family":"Consiglio","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Technologies, ITB-CNR, 70126 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"D\u2019Amato","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Di Venere Hospital, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5299-6036","authenticated-orcid":false,"given":"Mattia","family":"Gentile","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, ASL Bari, 70012 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4676-8042","authenticated-orcid":false,"given":"Valentina","family":"Mirabelli","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Technologies, ITB-CNR, 70126 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8569-247X","authenticated-orcid":false,"given":"Maria","family":"Piane","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sapienza University, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla","family":"Savio","sequence":"additional","affiliation":[{"name":"Sant\u2019Andrea University Hospital, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8763-0114","authenticated-orcid":false,"given":"Marco","family":"Fabiani","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3787-3836","authenticated-orcid":false,"given":"Domenica","family":"D\u2019Elia","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Technologies, ITB-CNR, 70126 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Sbis\u00e0","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Technologies, ITB-CNR, 70126 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5477-0711","authenticated-orcid":false,"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, AORN \u201cSan Pio\u201d, Hosp. \u201cG. Rummo\u201d, 82100 Benevento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5712-0754","authenticated-orcid":false,"given":"Fortunato","family":"Lonardo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, AORN \u201cSan Pio\u201d, Hosp. \u201cG. 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