{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:16:49Z","timestamp":1760149009142,"version":"build-2065373602"},"reference-count":17,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T00:00:00Z","timestamp":1687564800000},"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>17p13 is a chromosomal region characterized by genomic instability due to high gene density leading to multiple deletion and duplication events. 17p13.3 microduplication syndrome is a rare condition, reported only in 40 cases worldwide, which is found in the Miller\u2013Dieker chromosomal region, presenting a wide range of phenotypic manifestations. Usually, the duplicated area is de novo and varies in size from 1.8 to 4.0 Mbp. Critical genes for this region are PAFAH1B1 (#601545), YWHAE (#605066), and CRK (#164762). 17p13.3 microduplication syndrome can be categorized into two classes (Class I and Class II) based on the genes that are present in the duplicated area, which lead to different phenotypes. In this report, we present a new case of Class I 17p13.3 microduplication syndrome that presents with unilateral sensorineural hearing loss. Oligonucleotide and SNP array comparative genomic hybridization (a-CGH) analysis revealed a duplication of approximately 121 Kbp on chromosome 17p13.3, which includes YWHAE and CRK genes. Whole-exome sequencing (WES) analysis confirmed the duplication. Our patient has common clinical symptoms of Class I 17p13.3 microduplication syndrome, and in addition, she has unilateral sensorineural hearing loss. Interestingly, WES analysis did not detect any mutations in genes that are associated with hearing loss. The above findings lead us to propose that hearing loss is a manifestation of 17p13.3 duplication syndrome.<\/jats:p>","DOI":"10.3390\/genes14071333","type":"journal-article","created":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T02:05:02Z","timestamp":1687745102000},"page":"1333","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2879-6074","authenticated-orcid":false,"given":"Spiros","family":"Vittas","sequence":"first","affiliation":[{"name":"MicroGenome, 25th Martiou 55 Str., 564 29 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Bisba","sequence":"additional","affiliation":[{"name":"MicroGenome, 25th Martiou 55 Str., 564 29 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgia","family":"Christopoulou","sequence":"additional","affiliation":[{"name":"Genotypos Science Labs Medical SA, 3-5 Ilision Str., 115 28 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loukia","family":"Apostolakopoulou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sofia Hospital, 115 27 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roser","family":"Pons","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sofia Hospital, 115 27 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pantelis","family":"Constantoulakis","sequence":"additional","affiliation":[{"name":"Genotypos Science Labs Medical SA, 3-5 Ilision Str., 115 28 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fgene.2018.00080","article-title":"Neurodevelopmental Genetic Diseases Associated with Microdeletions and Microduplications of Chromosome 17p13.3","volume":"9","author":"Blazejewski","year":"2018","journal-title":"Front. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.gene.2013.09.044","article-title":"Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review","volume":"532","author":"Chen","year":"2013","journal-title":"Gene"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/jmg.2009.069906","article-title":"Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes","volume":"47","author":"Bruno","year":"2010","journal-title":"J. Med Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/ejhg.2011.97","article-title":"17p13.3 microduplications are associated with split-hand\/foot malformation and long-bone deficiency (SHFLD)","volume":"19","author":"Armour","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1833","DOI":"10.1002\/ajmg.a.35996","article-title":"The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes","volume":"161A","author":"Curry","year":"2013","journal-title":"Am. J. Med Genet. Part A"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1136\/jmg.2008.065094","article-title":"A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome","volume":"46","author":"Roos","year":"2009","journal-title":"J. Med Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.ejmg.2010.12.006","article-title":"A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation","volume":"54","author":"Hyon","year":"2011","journal-title":"Eur. J. Med Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng.302","article-title":"Increased LIS1 expression affects human and mouse brain development","volume":"41","author":"Bi","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Liu, X., Bennison, S.A., Robinson, L., and Toyo-Oka, K. (Brain Sci., 2021). Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3\u03b5), Brain Sci.","DOI":"10.3390\/brainsci12010056"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ejogrb.2022.04.025","article-title":"Prenatal diagnosis of Miller-Dieker syndrome\/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results","volume":"274","author":"Zhang","year":"2022","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Capra, V., Mirabelli-Badenier, M., Stagnaro, M., Rossi, A., Tassano, E., Gimelli, S., and Gimelli, G. (2012). Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems. BMC Med Genet., 13.","DOI":"10.1186\/1471-2350-13-93"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Da Silva, J.D., Gonzaga, D., Barreta, A., Correia, H., Fortuna, A.M., Soares, A.R., and Tkachenko, N. (2022). Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication. Biomedicines, 10.","DOI":"10.3390\/biomedicines10123078"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"803334","DOI":"10.3389\/fpsyt.2021.803334","article-title":"The Relationship Between Generalised Joint Hypermobility and Autism Spectrum Disorder in Adults: A Large, Cross-Sectional, Case Control Comparison","volume":"12","author":"Glans","year":"2022","journal-title":"Front. Psychiatry"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1111\/cge.12683","article-title":"Genomic copy number alterations in non-syndromic hearing loss","volume":"89","author":"Rosenberg","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1136\/jmedgenet-2015-103389","article-title":"Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran","volume":"52","author":"Babanejad","year":"2015","journal-title":"J. Med Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.ijporl.2018.02.022","article-title":"Evaluation of the outcome of CT and MR imaging in pediatric patients with bilateral sensorineural hearing loss","volume":"108","author":"Calkoen","year":"2018","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"111430","DOI":"10.1016\/j.ijporl.2022.111430","article-title":"Predictors of successful natural sleep MRI for sensorineural hearing loss in infants","volume":"165","author":"Liao","year":"2023","journal-title":"Int. J. Pediatr. Otorhinolaryngol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/7\/1333\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:59:55Z","timestamp":1760126395000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/7\/1333"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,24]]},"references-count":17,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2023,7]]}},"alternative-id":["genes14071333"],"URL":"https:\/\/doi.org\/10.3390\/genes14071333","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2023,6,24]]}}}