{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:45Z","timestamp":1790768925887,"version":"4.1.0"},"reference-count":46,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T00:00:00Z","timestamp":1670284800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Higher Education Commission","award":["KUST\/Ethical Committee\/16-09"],"award-info":[{"award-number":["KUST\/Ethical Committee\/16-09"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Stuttering is a common neurodevelopment speech disorder that negatively affects the socio-psychological dimensions of people with disability. It displays many attributes of a complex genetic trait, and a few genetic loci have been identified through linkage studies. Stuttering is highly variable regarding its phenotypes and molecular etiology. However, all stutters have some common features, including blocks in speech, prolongation, and repetition of sounds, syllables, and words. The involuntary actions associated with stuttering often involve increased eye blinking, tremors of the lips or jaws, head jerks, clenched fists, perspiration, and cardiovascular changes. In the present study, we recruited a consanguineous Pakistani family showing an autosomal recessive mode of inheritance. The exome sequencing identified a homozygous splice site variant in ARMC3 (Armadillo Repeat Containing 3) in a consanguineous Pashtun family of Pakistani origin as the underlying genetic cause of non-syndromic stuttering. The homozygous splice site variant (NM_173081.5:c.916 + 1G &gt; A) segregated with the stuttering phenotype in this family. The splice change leading to the skipping of exon-8 is a loss of function (LoF) variant, which is predicted to undergo NMD (Nonsense mediated decay). Here, we report ARMC3 as a novel candidate gene causing the stuttering phenotype. ARMC3 may lead to neurodevelopmental disorders, including stuttering in humans.<\/jats:p>","DOI":"10.3390\/genes13122299","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T02:49:35Z","timestamp":1670381375000},"page":"2299","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3014-2048","authenticated-orcid":false,"given":"Adil U","family":"Rehman","sequence":"first","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malaika","family":"Hamid","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5436-8917","authenticated-orcid":false,"given":"Sher Alam","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Eisa","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasim","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zia Ur","family":"Rehman","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muzammil Ahmad","family":"Khan","sequence":"additional","affiliation":[{"name":"Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan 29111, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-6825","authenticated-orcid":false,"given":"Sulman","family":"Basit","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases, Taibah University, Al-Madinah Al-Munwarah 42238, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor","family":"Muhammad","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadullah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, KP, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3455-8833","authenticated-orcid":false,"given":"Naveed","family":"Wasif","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Ulm University and Ulm University Medical Center, 89081 Ulm, Germany"},{"name":"Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, 24106 Kiel, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1044\/1058-0360(2007\/021)","article-title":"Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins","volume":"16","author":"Dworzynski","year":"2007","journal-title":"Am. 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