{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T12:54:44Z","timestamp":1780059284980,"version":"3.54.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T00:00:00Z","timestamp":1708387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["KO 2891\/6\u20101"],"award-info":[{"award-number":["KO 2891\/6\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005156","name":"Alexander von Humboldt-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100022241","name":"Office of Research, Innovation and Commercialization, University of Agriculture Faisalabad","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100022241","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:styled-content>Sk<\/jats:styled-content>\n                    eletal\n                    <jats:styled-content>d<\/jats:styled-content>\n                    ysplasias (SKDs) are a heterogeneous group of more than 750 genetic disorders characterized by abnormal development, growth, and maintenance of bones or cartilage in the human skeleton. SKDs are often caused by variants in early patterning genes and in many cases part of multiple malformation syndromes and occur in combination with non\u2010skeletal phenotypes. The aim of this study was to investigate the underlying genetic cause of congenital SKDs in highly consanguineous Pakistani families, as well as in sporadic and familial SKD cases from India using multigene panel sequencing analysis. Therefore, we performed panel sequencing of 386 bone\u2010related genes in 7 highly consanguineous families from Pakistan and 27 cases from India affected with SKDs. In the highly consanguineous families, we were able to identify the underlying genetic cause in five out of seven families, resulting in a diagnostic yield of 71%. Whereas, in the sporadic and familial SKD cases, we identified 12 causative variants, corresponding to a diagnostic yield of 44%. The genetic heterogeneity in our cohorts was very high and we were able to detect various types of variants, including missense, nonsense, and frameshift variants, across multiple genes known to cause different types of SKDs. In conclusion, panel sequencing proved to be a highly effective way to decipher the genetic basis of SKDs in highly consanguineous families as well as sporadic and or familial cases from South Asia. Furthermore, our findings expand the allelic spectrum of skeletal dysplasias.\n                  <\/jats:p>","DOI":"10.1111\/cge.14509","type":"journal-article","created":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T18:34:36Z","timestamp":1708454076000},"page":"47-55","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Multi\u2010gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias"],"prefix":"10.1111","volume":"106","author":[{"given":"Naseebullah","family":"Kakar","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4tsklinikum Schleswig\u2010Holstein, University of L\u00fcbeck and University of Kiel  L\u00fcbeck Germany"},{"name":"Department of Biotechnology BUITEMS  Quetta Pakistan"},{"name":"Institute of Human Genetics Ulm University  Ulm 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