{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:26:35Z","timestamp":1760145995003,"version":"build-2065373602"},"reference-count":16,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T00:00:00Z","timestamp":1727395200000},"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>This Special Issue of Genes, titled \u201cGenetic and Molecular Basis of Inherited Disorders\u201d, presents a collection of pioneering research articles that advance our understanding of the genetic mechanisms underlying various hereditary diseases. The studies employ cutting-edge genomic techniques, including next-generation sequencing and genome-wide association studies, to elucidate novel genetic variants and their functional implications. Key investigations span a diverse range of conditions, from congenital idiopathic nystagmus and hereditary hearing loss to familial hypercholesterolemia and rare cancer predisposition syndromes. Notable findings include the identification of new gene\u2013disease associations in congenital anomalies of the kidney and urinary tract, the discovery of large genomic rearrangements in breast cancer susceptibility, and insights into the genetic basis of pigmentary traits and associated disease risks. This Special Issue also highlights the significance of copy number variations and rare structural variants in disease pathogenesis. Collectively, these studies underscore the complexity of genetic variation in inherited disorders and demonstrate the critical role of integrating advanced genetic analyses with clinical practice to enhance diagnostic precision and develop targeted therapeutic approaches.<\/jats:p>","DOI":"10.3390\/genes15101259","type":"journal-article","created":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T03:44:13Z","timestamp":1727408653000},"page":"1259","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Editorial on the Special Issue \u201cGenetic and Molecular Basis of Inherited Disorders\u201d"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8524-7402","authenticated-orcid":false,"given":"Rodolfo","family":"Iuliano","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0916-8101","authenticated-orcid":false,"given":"Francesco","family":"Paduano","sequence":"additional","affiliation":[{"name":"Stem Cells and Medical Genetics Units, Tecnologica Research Institute and Marrelli Health, 88900 Crotone, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Wiggs, J.L. (2022). Molecular Mechanisms of Inherited Disease. Albert and Jakobiec\u2019s Principles and Practice of Ophthalmology, Springer.","DOI":"10.1007\/978-3-030-42634-7_147"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1002\/humu.23427","article-title":"Inferring the effect of genomic variation in the new era of genomics","volume":"39","author":"Chakravorty","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Paduano, F., Fischetto, R., Moretti, B., De Vito, D., and Tatullo, M. (2023). Expanding the genetic and clinical spectrum of osteogenesis imperfecta: Identification of novel rare pathogenic variants in type I collagen-encoding genes. Front. Endocrinol., 14.","DOI":"10.3389\/fendo.2023.1254695"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Paduano, F., Colao, E., Fabiani, F., Rocca, V., Dinatolo, F., Dattola, A., D\u2019Antona, L., Amato, R., Trapasso, F., and Baudi, F. (2022). Germline testing in a cohort of patients at high risk of hereditary cancer predisposition syndromes: First two-year results from South Italy. Genes, 13.","DOI":"10.3390\/genes13071286"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1002\/humu.24367","article-title":"Gene\u2013disease relationship evidence: A clinical perspective focusing on ultra-rare diseases","volume":"43","author":"Santen","year":"2022","journal-title":"Hum. Mutat."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"404","DOI":"10.2174\/0929867324666170718101946","article-title":"NGS technologies as a turning point in rare disease research, diagnosis and treatment","volume":"25","author":"Gouveia","year":"2018","journal-title":"Curr. Med. Chem."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/j.tig.2019.08.006","article-title":"Toward clinical implementation of next-generation sequencing-based genetic testing in rare diseases: Where are we?","volume":"35","author":"Liu","year":"2019","journal-title":"Trends Genet."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Lazareva, T.E., Barbitoff, Y.A., Nasykhova, Y.A., Pavlova, N.S., Bogaychuk, P.M., and Glotov, A.S. (2023). Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases. Genes, 14.","DOI":"10.3390\/genes14112100"},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Arshad, M.W., Shabbir, M.I., Asif, S., Shahzad, M., Leydier, L., and Rai, S.K. (2023). FRMD7 gene alterations in a Pakistani Family Associated with congenital idiopathic nystagmus. Genes, 14.","DOI":"10.3390\/genes14020346"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Farr\u00e9, X., Blay, N., Cort\u00e9s, B., Carreras, A., Iraola-Guzm\u00e1n, S., and De Cid, R. (2023). Skin phototype and disease: A comprehensive genetic approach to pigmentary traits pleiotropy using PRS in the GCAT cohort. Genes, 14.","DOI":"10.3390\/genes14010149"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Nascimento, L.R.d., Vieira-Silva, G.A., Kitajima, J.P.F.W., Batissoco, A.C., and Lezirovitz, K. (2022). New Insights into the Identity of the DFNA58 Gene. Genes, 13.","DOI":"10.3390\/genes13122274"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Ben Aissa-Haj, J., Pinheiro, H., Cornelis, F., Sebai, M., Meseure, D., Briaux, A., Berteaux, P., Lefol, C., Des Guetz, G., and Trassard, M. (2022). The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1\/2 Negative and Breast Cancer Susceptibility. Genes, 13.","DOI":"10.3390\/genes13122213"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Al-Hamed, M.H., Sayer, J.A., Alsahan, N., Edwards, N., Ali, W., Tulbah, M., and Imtiaz, F. (2022). Missense variants in GFRA1 and NPNT are associated with congenital anomalies of the kidney and urinary tract. Genes, 13.","DOI":"10.3390\/genes13101687"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Rutkowska, L., Pinkier, I., Sa\u0142aci\u0144ska, K., K\u0119pczy\u0144ski, \u0141., Salachna, D., Lewek, J., Banach, M., Matusik, P., Starostecka, E., and Lewi\u0144ski, A. (2022). Identification of new copy number variation and the evaluation of a CNV detection tool for NGS panel data in polish familial hypercholesterolemia patients. Genes, 13.","DOI":"10.3390\/genes13081424"},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Kabbage, M., Ben Aissa-Haj, J., Othman, H., Jaballah-Gabteni, A., Laarayedh, S., Elouej, S., Medhioub, M., Kettiti, H.T., Khsiba, A., and Mahmoudi, M. (2022). A rare MSH2 variant as a candidate marker for lynch syndrome II screening in Tunisia: A case of diffuse gastric carcinoma. Genes, 13.","DOI":"10.3390\/genes13081355"},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Politi, C., Grillone, K., Nocera, D., Colao, E., Bellisario, M.L., Loddo, S., Catino, G., Novelli, A., Perrotti, N., and Iuliano, R. (2024). Non-Invasive Prenatal Test Analysis Opens a Pandora\u2019s Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome. 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