{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:09:41Z","timestamp":1760148581898,"version":"build-2065373602"},"reference-count":28,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,5,21]],"date-time":"2023-05-21T00:00:00Z","timestamp":1684627200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion\/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb and includes several genes, such as RORB and TRPM6. Here, we report a case of a 7-year-old boy affected by 9q21.13 microdeletion syndrome. He presents with global developmental delay, intellectual disability, autistic behaviour, seizures and facial dysmorphism. Moreover, he has severe myopia, which was previously reported in only another patient with 9q21.13 deletion, and brain anomalies which were never described before in 9q21.13 microdeletion syndrome. We also collect 17 patients from a literature search and 10 cases from DECIPHER database with a total number of 28 patients (including our case). In order to better investigate the four candidate genes RORB, TRPM6, PCSK5, and PRUNE2 for neurological phenotype, we make, for the first time, a classification in four groups of all the collected 28 patients. This classification is based both on the genomic position of the deletions included in the 9q21.3 locus deleted in our patient and on the different involvement of the four-candidate gene. In this way, we compare the clinical problems, the radiological findings, and the dysmorphic features of each group and of all the 28 patients in our article. Moreover, we perform the genotype\u2013phenotype correlation of the 28 patients to better define the syndromic spectrum of 9q21.13 microdeletion syndrome. Finally, we propose a baseline ophthalmological and neurological monitoring of this syndrome.<\/jats:p>","DOI":"10.3390\/genes14051116","type":"journal-article","created":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T01:31:46Z","timestamp":1684719106000},"page":"1116","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["New Insights in 9q21.13 Microdeletion Syndrome: Genotype\u2013Phenotype Correlation of 28 Patients"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1569-1556","authenticated-orcid":false,"given":"Alessandro","family":"De Falco","sequence":"first","affiliation":[{"name":"U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy"},{"name":"Dipartimento di Medicina Molecolare di Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80136 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9558-0356","authenticated-orcid":false,"given":"Achille","family":"Iolascon","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy"},{"name":"Dipartimento di Medicina Molecolare di Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80136 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flora","family":"Ascione","sequence":"additional","affiliation":[{"name":"Hospital Directorate, A.O.R.N. \u201cAntonio Cardarelli\u201d, 80100 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmelo","family":"Piscopo","sequence":"additional","affiliation":[{"name":"Medical and Laboratory Genetics Unit, A.O.R.N. \u201cAntonio Cardarelli\u201d, 80100 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1080\/14737159.2018.1479253","article-title":"Novel Applications of Array Comparative Genomic Hybridization in Molecular Diagnostics","volume":"18","author":"Cheung","year":"2018","journal-title":"Expert Rev. 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