{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T22:37:07Z","timestamp":1762900627112,"version":"build-2065373602"},"reference-count":68,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T00:00:00Z","timestamp":1723507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Higher Education Commission (HEC)","award":["518-108842-2PS5-073","R21DC017830"],"award-info":[{"award-number":["518-108842-2PS5-073","R21DC017830"]}]},{"name":"National Institute on Deafness and Other Communication Disorders (NIDCD)","award":["518-108842-2PS5-073","R21DC017830"],"award-info":[{"award-number":["518-108842-2PS5-073","R21DC017830"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Speech is the most common means of communication in humans. Any defect in accurate speech production ability results in the development of speech sound disorder (SSD), a condition that can significantly impair an individual\u2019s academic performance, social interactions, and relationships with peers and adults. This study investigated the genetic basis of SSD in three Pakistani families. We performed family-based genome-wide parametric linkage analysis and homozygosity mapping in three consanguineous families with SSD from the Punjab province of Pakistan. The Test for Assessment of Articulation and Phonology in Urdu (TAAPU) was used to analyze the speech articulation data and determine the Percentage Correct Consonants (PCC) score. The PCC score defined the affected and unaffected individuals in each family. Parametric linkage analysis revealed a linkage to chromosome 5 (5q21.3-5q23.1) with a significant logarithm of the odds (LOD) score of 3.13 in a Pakistani family with specific language impairment-97 (PKSLI-97) under an autosomal recessive mode of inheritance. The other two families showed a suggestive linkage at 6p22.1, 14q12, and 16q12.1 under the recessive mode of inheritance. Interestingly, homozygosity mapping showed a loss of heterozygosity in the linkage region at 5q15-5q23.1, shared among seven affected (mostly in the younger generation) and one unaffected individual of PKSLI-97. Our analysis identified the 6p22 locus previously implicated in dyslexia, childhood apraxia of speech (CAS), and language impairment, confirming the role of KIAA0319 and DCDC2 in this locus. These findings provide statistical evidence for the genomic regions associated with articulation disorder and offer future opportunities to further the role of genes in speech production.<\/jats:p>","DOI":"10.3390\/genes15081069","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T13:35:49Z","timestamp":1723556149000},"page":"1069","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Whole Genome Analysis in Consanguineous Families Reveals New Loci for Speech Sound Disorder (SSD)"],"prefix":"10.3390","volume":"15","author":[{"given":"Tahira","family":"Yasmin","sequence":"first","affiliation":[{"name":"Centre for Clinical and Nutritional Chemistry, School of Chemistry, University of the Punjab, Lahore 54590, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0579-7851","authenticated-orcid":false,"given":"Aatika","family":"Sadia","sequence":"additional","affiliation":[{"name":"Centre for Clinical and Nutritional Chemistry, School of Chemistry, University of the Punjab, Lahore 54590, Pakistan"},{"name":"Laboratory of Organic Electronics, Department of Science and Technology, Link\u00f6ping University, Norrk\u00f6ping Campus, 60221 Norrk\u00f6ping, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laraib","family":"Nadeem","sequence":"additional","affiliation":[{"name":"Centre for Clinical and Nutritional Chemistry, School of Chemistry, University of the Punjab, Lahore 54590, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Asim Raza","family":"Basra","sequence":"additional","affiliation":[{"name":"Centre for Clinical and Nutritional Chemistry, School of Chemistry, University of the Punjab, Lahore 54590, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mabel L.","family":"Rice","sequence":"additional","affiliation":[{"name":"Speech-Language-Hearing Sciences & Disorders, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7027-5195","authenticated-orcid":false,"given":"Muhammad Hashim","family":"Raza","sequence":"additional","affiliation":[{"name":"Speech-Language-Hearing Sciences & Disorders, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1007\/s10519-006-9090-7","article-title":"Speech sound disorder influenced by a locus in 15q14 region","volume":"36","author":"Stein","year":"2006","journal-title":"Behav. 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