{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T01:34:46Z","timestamp":1773797686770,"version":"3.50.1"},"reference-count":15,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Ministry of Science and Higher Education of the Russian Federation (the Federal Scientific Technical Program for Genetic Technologies Development for 2019\u20132027","award":["075-15-2021-1061"],"award-info":[{"award-number":["075-15-2021-1061"]}]},{"name":"The Ministry of Science and Higher Education of the Russian Federation (the Federal Scientific Technical Program for Genetic Technologies Development for 2019\u20132027","award":["193021X0029"],"award-info":[{"award-number":["193021X0029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The HOXB1 gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date. Here, we report a 27-year-old female with a unique presentation of HCFP3 with two novel compound-heterozygous missense variants: c.763C&gt;G, p.(Arg255Gly), which arose de novo and an inherited c.781C&gt;T, p.(Arg261Cys) variant. The patient exhibited HCFP3 symptoms with mild upward esodeviation and lacked the documented ear malformations common in HCFP. For many years, she was misdiagnosed with facio-scapulo-humeral muscular dystrophy, due to complaints of shoulder girdle and neck muscle weakness. No alternative genetic or acquired causes of neck and shoulder girdle weakness were found, suggesting its potential inclusion in the phenotypic spectrum.<\/jats:p>","DOI":"10.3390\/ijms25010129","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T05:36:12Z","timestamp":1703136972000},"page":"129","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7023-7378","authenticated-orcid":false,"given":"Aysylu","family":"Murtazina","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5871-8005","authenticated-orcid":false,"given":"Artem","family":"Borovikov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kuchina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Ovsova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurosurgery and Medical Genetics, Ural State Medical University, 620028 Ekaterinburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8674-7230","authenticated-orcid":false,"given":"Maria","family":"Bulakh","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5474-4713","authenticated-orcid":false,"given":"Alena","family":"Chukhrova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Braslavskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1285-9093","authenticated-orcid":false,"given":"Oksana","family":"Ryzhkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolay","family":"Skryabin","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634050 Tomsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Dadali","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ajhg.2012.05.018","article-title":"HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1\u2212\/\u2212 mice","volume":"91","author":"Webb","year":"2012","journal-title":"Am. 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