{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T19:27:12Z","timestamp":1785353232234,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,27]],"date-time":"2022-12-27T00:00:00Z","timestamp":1672099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:sec><jats:title>Abstract<\/jats:title><jats:p>Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole\u2010exome sequencing (WES) has been on the rise to become the usual method of choice for molecular diagnosis in patients presenting with muscular dystrophy or congenital or metabolic myopathy phenotype. Here, we used a panel with 47 genes including not only muscular dystrophy but also myopathy\u2010associated genes that had been used as a first\u2010tier approach. A total of 146 patients who were referred to our clinic with the prediagnosis of muscular dystrophy and\/or myopathy were included in the study. Dystrophin gene deletion\/duplication was ruled out on the patients with a preliminary diagnosis of Duchenne muscular dystrophy. In this study, the molecular etiology of 67 patients was proved with the gene panel with a diagnostic yield of 46%. Causal variants were identified in 23 genes including <jats:italic>CAPN3(11)<\/jats:italic>, <jats:italic>DYSF(9)<\/jats:italic>, <jats:italic>DMD(8)<\/jats:italic>, <jats:italic>SGCA(5)<\/jats:italic>, <jats:italic>TTN(4)<\/jats:italic>, <jats:italic>LAMA2(3)<\/jats:italic>, <jats:italic>LMNA(3)<\/jats:italic>, <jats:italic>SGCB(3)<\/jats:italic>, <jats:italic>COL6A1(3)<\/jats:italic>, <jats:italic>DES (2)<\/jats:italic>, <jats:italic>CAV3(2)<\/jats:italic>, <jats:italic>FKRP(2)<\/jats:italic>, <jats:italic>FKTN(2)<\/jats:italic>, <jats:italic>ANO5<\/jats:italic>, <jats:italic>COL6A2<\/jats:italic>, <jats:italic>CLCN1<\/jats:italic>, <jats:italic>GNE<\/jats:italic>, <jats:italic>POMGNT1<\/jats:italic>, <jats:italic>POMGNT2<\/jats:italic>, <jats:italic>POMT2<\/jats:italic>, <jats:italic>SYNE1<\/jats:italic>, <jats:italic>TCAP<\/jats:italic>, and <jats:italic>FLNC<\/jats:italic> with 16 novel variants. There were 27 patients with uncertain molecular results including the ones who had a variant of uncertain significance, who had only one heterozygous variant for an autosomal recessive disease, and the ones who had two variants in different genes. Molecular diagnosis in muscular dystrophy is essential to plan clinical management and choosing treatment options. Also, the results will affect the reproduction options. Targeted next\u2010generation sequencing is a cost\u2010effective method that reduces the WES requirements with a significant diagnostic rate.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12492","type":"journal-article","created":{"date-parts":[[2022,12,28]],"date-time":"2022-12-28T07:34:55Z","timestamp":1672212895000},"page":"104-114","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["High diagnostic yield of targeted next\u2010generation sequencing panel as a first\u2010tier molecular test for the patients with myopathy or muscular dystrophy"],"prefix":"10.1111","volume":"87","author":[{"given":"B\u00fc\u015franur","family":"\u00c7avdarl\u0131","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Ankara City Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6zlem Yayici","family":"K\u00f6ken","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Akdeniz University  Antalya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saide Bet\u00fcl Arslan","family":"Sat\u0131lm\u0131\u015f","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara City Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015eule","family":"Bilen","sequence":"additional","affiliation":[{"name":"Department of Neurology Ankara City Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didem","family":"Ard\u0131\u00e7l\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Ankara City Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet Cevdet","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara City Hospital  Ankara Turkey"},{"name":"Department of Medical Genetics Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cavidan Nur Semerci","family":"G\u00fcnd\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara City Hospital  Ankara Turkey"},{"name":"Department of Medical Genetics Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haluk","family":"Topalo\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Yeditepe University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2015.230"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-020-04304-w"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-017-0419-z"},{"key":"e_1_2_9_5_1","doi-asserted-by":"crossref","unstructured":"\u00c7avdarl\u0131 B. Yay\u0131c\u0131 \u00d6. K. Ceylan A. C. G\u00fcnd\u00fcz C. N. S. & Topalo\u011flu H. (2021). Genetic Landscape of Dystrofin Gene Deletions and Duplications From Turkey: A Single Center Experience. T\u00fcrkiye \u00c7ocuk Hastal\u0131klar\u0131 Dergisi 15 319\u2010324.","DOI":"10.12956\/tchd.913588"},{"key":"e_1_2_9_6_1","doi-asserted-by":"crossref","unstructured":"Chen Q. Zheng W. Xu H. Yang Y. Song Z. Yuan L. & Deng H. (2021). Digenic variants in the TTN and TRAPPC11 genes co\u2010segregating with a limb\u2010girdle muscular dystrophy in a Han Chinese family. Frontiers in neuroscience 15 601757.","DOI":"10.3389\/fnins.2021.601757"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2005.20.1.82"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2015.0131"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13560"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2015.2274"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/cphg.93"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27112"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8036-0"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.649"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.37"},{"key":"e_1_2_9_16_1","doi-asserted-by":"crossref","unstructured":"Mercuri E. & Muntoni F. (2013). Muscular dystrophies. The Lancet 381(9869): 845\u2010860.","DOI":"10.1016\/S0140-6736(12)61897-2"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24687"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12319"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000492664"},{"issue":"5","key":"e_1_2_9_20_1","first-page":"1128","article-title":"Multiple independent molecular etiology for limb\u2010girdle muscular dystrophy type 2A patients from various geographical origins","volume":"60","author":"Richard I.","year":"1997","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12429"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14616"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12621"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000408"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.12.014"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.11.018"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000263138.57257.6a"},{"issue":"3","key":"e_1_2_9_29_1","first-page":"210","article-title":"Childhood onset limb\u2010girdle muscular dystrophies in the Aegean part of Turkey","volume":"37","author":"YI\u0307\u015f U.","year":"2018","journal-title":"Acta Myologica"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.07.009"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12492","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ahg.12492","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T07:53:28Z","timestamp":1692690808000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,27]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1111\/ahg.12492"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12492","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,27]]},"assertion":[{"value":"2022-03-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}