{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T00:50:17Z","timestamp":1771548617047,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,10,18]],"date-time":"2013-10-18T00:00:00Z","timestamp":1382054400000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro\u2010osteolysis of the distal phalanges, bone fragility and skull deformities. Mutations in the <jats:italic>cathepsin <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">CTSK<\/jats:styled-content>)<\/jats:italic> gene, which encodes a lysosomal cysteine protease highly expressed in osteoclasts, have been found to be responsible for the disease. We identified a <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>hai girl with pycnodysostosis. Her parents were first cousins. Polymerase chain reaction sequencing of the entire coding regions of <jats:italic><jats:styled-content style=\"fixed-case\">CTSK<\/jats:styled-content><\/jats:italic> of the proband's complementary <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> revealed that the whole exon 2 was skipped. We subsequently amplified exon 2 using genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>, which showed that the patient was homozygous for a c.120<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> mutation. The mutation was located at the last nucleotide of exon 2. Its presence was confirmed by restriction enzyme analysis using <jats:styled-content style=\"fixed-case\"><jats:italic>Ban<\/jats:italic>I<\/jats:styled-content>. The skipping of exon 2 eliminates the normal start codon. The mutation has never been previously reported, thus the current report expands the <jats:italic><jats:styled-content style=\"fixed-case\">CTSK<\/jats:styled-content><\/jats:italic> mutational spectrum.<\/jats:p>","DOI":"10.1111\/ped.12091","type":"journal-article","created":{"date-parts":[[2013,10,18]],"date-time":"2013-10-18T08:11:41Z","timestamp":1382083901000},"page":"651-655","source":"Crossref","is-referenced-by-count":8,"title":["Novel <i><scp>CTSK<\/scp><\/i> mutation resulting in an entire exon 2 skipping in a <scp>T<\/scp>hai girl with pycnodysostosis"],"prefix":"10.1111","volume":"55","author":[{"given":"Pattarapa","family":"Utokpat","sequence":"first","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Society  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wipa","family":"Panmontha","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Chulalongkorn University  Bangkok Thailand"},{"name":"Department of Medical Sciences Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Society  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siraprapa","family":"Tongkobpetch","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Chulalongkorn University  Bangkok Thailand"},{"name":"Department of Medical Sciences Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Society  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanya","family":"Suphapeetiporn","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Society  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics Department of Pediatrics Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital Thai Red Cross Society  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,10,18]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"999","article-title":"Pyknodysostosis","volume":"70","author":"Maroteaux P","year":"1962","journal-title":"Presse Med."},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5279.1236"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.21.12517"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.11.1050"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI653"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9490"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.2310\/JIM.0b013e3181da50bd"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.2310\/JIM.0b013e318202a9db","article-title":"Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K)","volume":"59","author":"Toral\u2010Lopez J","year":"2011","journal-title":"J. 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