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Here, we enrolled consanguineous kindred from a remote area of Sindh province of Pakistan, with 14 affected individuals suffering with short stature, kyphoscoliosis, joint dislocations, clubfoot, heart valve anomalies and progressive bilateral mixed hearing loss. To identify pathogenic variants in this family, whole exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) was performed in one affected and one normal individual, which revealed a novel transversion mutation (c.<jats:styled-content style=\"fixed-case\">802G<\/jats:styled-content>&gt;T; p.Glu268*) in<jats:italic><jats:styled-content style=\"fixed-case\">CHST3<\/jats:styled-content><\/jats:italic>associated with the phenotype.<jats:italic><jats:styled-content style=\"fixed-case\">CHST3<\/jats:styled-content><\/jats:italic>encodes a chondroitin 6\u2010<jats:italic>O<\/jats:italic>\u2010sulfotransferase\u20101 (<jats:styled-content style=\"fixed-case\">C6ST<\/jats:styled-content>\u20101) enzyme that is essential for the sulfation of proteoglycans found in cartilages. Previously, mutations in<jats:italic><jats:styled-content style=\"fixed-case\">CHST3<\/jats:styled-content><\/jats:italic>have largely been reported in sporadic cases of SD, primarily with severe spinal abnormalities, joint dislocations, joint contractures, and clubfoot. Clinical and radiological examination of the affected individuals in this family provides new insights into phenotypic spectrum of<jats:italic><jats:styled-content style=\"fixed-case\">CHST3<\/jats:styled-content><\/jats:italic>alleles and disease progression with age.<\/jats:p>","DOI":"10.1111\/cge.12694","type":"journal-article","created":{"date-parts":[[2015,11,17]],"date-time":"2015-11-17T07:40:51Z","timestamp":1447746051000},"page":"90-95","source":"Crossref","is-referenced-by-count":26,"title":["A novel<i><scp>CHST3<\/scp><\/i>allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred"],"prefix":"10.1111","volume":"90","author":[{"given":"A. M.","family":"Waryah","sequence":"first","affiliation":[{"name":"Molecular Biology &amp; Genetics Department, Medical Research Center Liaquat University of Medical &amp; Health Sciences Jamshoro Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Shahzad","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine University of Maryland Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Shaikh","sequence":"additional","affiliation":[{"name":"Molecular Biology &amp; Genetics Department, Medical Research Center Liaquat University of Medical &amp; Health Sciences Jamshoro Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. A.","family":"Sheikh","sequence":"additional","affiliation":[{"name":"Molecular Biology &amp; Genetics Department, Medical Research Center Liaquat University of Medical &amp; Health Sciences Jamshoro Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. A.","family":"Channa","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry University of Sindh Jamshoro Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine University of Cincinnati Cincinnati OH USA"},{"name":"Unit on Pediatric, Developmental &amp; Genetic Ophthalmology, Ophthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Makhdoom","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Liaquat University of Medical &amp; Health Sciences Jamshoro Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Riazuddin","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine University of Maryland Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z. M.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine University of Maryland Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,12,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181daae9b"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2015.03.003"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00008"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.maturitas.2014.04.016"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1695"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.173"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32482"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400334101"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01167.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.006"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33641"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005097"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.07.016"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti009"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.2"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20606"},{"key":"e_1_2_6_19_1","doi-asserted-by":"crossref","first-page":"2588","DOI":"10.1002\/ajmg.a.36094","article-title":"Two Somali half\u2010siblings with CHST3\u2010related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability","volume":"161","author":"Tanteles GA","year":"2013","journal-title":"Am J Med Genet A"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215107001466"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12694","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12694","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T13:48:45Z","timestamp":1718200125000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12694"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,21]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1111\/cge.12694"],"URL":"https:\/\/doi.org\/10.1111\/cge.12694","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,21]]}}}