{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T17:14:10Z","timestamp":1772212450119,"version":"3.50.1"},"reference-count":43,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007613","name":"Scientific Research Projects Coordination Unit of the University","doi-asserted-by":"publisher","award":["100266_1"],"award-info":[{"award-number":["100266_1"]}],"id":[{"id":"10.13039\/100007613","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Background\/Objectives: Pediatric sleep-disordered breathing (SDB) is influenced by craniofacial morphology and host susceptibility. Evidence integrating cephalometric airway features with targeted genetic variation in symptomatic skeletal Class II children remains limited. We explored whether children with skeletal Class II mandibular retrognathia and SDB symptoms harbor selected genetic variants and whether carriers show distinct cephalometric airway characteristics. Methods: This cross-sectional study included 48 children with skeletal Class II malocclusion, mandibular retrognathia, and snoring\/mouth-breathing symptoms. Craniofacial and airway parameters were assessed on lateral cephalograms. SDB burden was evaluated by a baseline home sleep study (respiratory event index, REI). Targeted sequencing screened TNFRSF1A, PSTPIP1, SLC6A4 (5HTT), ACE, APOE, IRS1, and additionally PHOX2B and PMP22. Exploratory group comparisons used Student\u2019s t-test. Results: Variants were identified in 13\/48 participants (27%) in TNFRSF1A, PSTPIP1, SLC6A4, ACE, APOE, and IRS1; none were detected in PHOX2B or PMP22. C3\u2013H was higher in variant carriers (39.90 \u00b1 6.40 vs. 36.48 \u00b1 3.95 mm; p &lt; 0.05). HH1 (perpendicular distance from the hyoid bone to the C3\u2013RGN line) was higher but not significant (16.99 \u00b1 7.58 vs. 14.61 \u00b1 5.25 mm; p &gt; 0.05). Conclusions: In this clinically screened pediatric skeletal Class II cohort with SDB symptoms, selected genetic variants co-occurred with specific hyoid\u2013cervical cephalometric features. Given the cross-sectional design, absence of a control group, and small number of carriers, findings are exploratory and require replication in larger, controlled cohorts with standardized phenotyping.<\/jats:p>","DOI":"10.3390\/children13030345","type":"journal-article","created":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T15:52:38Z","timestamp":1772207558000},"page":"345","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exploratory Associations of Targeted Genetic Variants with Cephalometric Airway Parameters in Children with Skeletal Class II Sleep-Disordered Breathing Symptoms"],"prefix":"10.3390","volume":"13","author":[{"given":"Nazl\u0131","family":"Karaca Kurt","sequence":"first","affiliation":[{"name":"Private Orthodontic Practice, Istanbul 34394, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9346-2768","authenticated-orcid":false,"given":"Hilal","family":"Algul","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Faculty of Dentistry, Ankara University, Ankara 06560, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Intergen Genetic and Rare Diseases Diagnosis and Research Center, Ankara 06510, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulay","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Intergen Genetic and Rare Diseases Diagnosis and Research Center, Ankara 06510, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse Tuba","family":"Altug","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Faculty of Dentistry, Ankara University, Ankara 06560, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4901-3411","authenticated-orcid":false,"given":"Tulin Ufuk","family":"Toygar Memikoglu","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Faculty of Dentistry, Ankara University, Ankara 06560, T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,2,27]]},"reference":[{"key":"ref_1","unstructured":"Berry, R.B., Brooks, R., Gamaldo, C.E., Harding, S.M., Lloyd, R.M., Marcus, C.L., and Vaughn, B.V. 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