{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:58:23Z","timestamp":1790863103905,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["MRG6080001"],"award-info":[{"award-number":["MRG6080001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Skeletal dysplasias are a complex group of more than 350 disorders with phenotypic and genotypic heterogeneity affecting bone and cartilage growth. We studied a 2\u2010year\u2010old girl and her 21\u2010year\u2010old mother with disproportionate short stature. In addition to typical features of hypochondroplasia found in both patients, the child had deformities of the extremity bones, metaphyseal flares, and bilateral transverse (Bowdler) fibular spurs with overlying skin dimples detected at birth. Intravenous pamidronate was started in the child since the age of 17 days, and then every two months. Exome sequencing revealed that the girl was heterozygous for a missense mutation (c.1651A&gt;G, p.Ile538Val) in exon 13 of <jats:italic>FGFR3<\/jats:italic>, a known mutation for hypochondroplasia, inherited from her mother. Interestingly, the child also harbored compound heterozygous missense mutations in exon 12 of <jats:italic>ALPL<\/jats:italic>, c.1460C&gt;T (p.Ala487Val) inherited from her mother and c.1479C&gt;A (p.Asn493Lys) inherited from her healthy father. The former mutation was previously reported in perinatal hypophosphatasia while the latter was novel. Constantly reduced serum alkaline phosphatase levels including the one before the pamidronate administration and a substantially elevated level of plasma pyridoxal 5\u2032\u2010phosphate detected at age 28 months supported the diagnosis of hypophosphatasia. After a definite diagnosis was achieved, pamidronate was withdrawn at the age of 28 months. No adverse events were observed during pamidronate therapy. In conclusion, we describe a unique case with monoallelic <jats:italic>FGFR3<\/jats:italic> and biallelic <jats:italic>ALPL<\/jats:italic> mutations leading to features of both hypochondroplasia and hypophosphatasia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38370","type":"journal-article","created":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T13:48:13Z","timestamp":1501595293000},"page":"2747-2752","source":"Crossref","is-referenced-by-count":18,"title":["Monoallelic <i>FGFR3<\/i> and Biallelic <i>ALPL<\/i> mutations in a Thai girl with hypochondroplasia and hypophosphatasia"],"prefix":"10.1002","volume":"173","author":[{"given":"Thantrira","family":"Porntaveetus","sequence":"first","affiliation":[{"name":"Craniofacial Genetics and Stem Cells Research Group, Faculty of Dentistry, Department of Physiology Chulalongkorn University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chalurmpon","family":"Srichomthong","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics, Faculty of Medicine, Department of Pediatrics Chulalongkorn University Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital The Thai Red Cross Society Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5679-7547","authenticated-orcid":false,"given":"Kanya","family":"Suphapeetiporn","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics, Faculty of Medicine, Department of Pediatrics Chulalongkorn University Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital The Thai Red Cross Society Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genetics, Faculty of Medicine, Department of Pediatrics Chulalongkorn University Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital The Thai Red Cross Society Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_3_1","volume-title":"Hypochondroplasia","author":"Bober M. B.","year":"1999"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<333::AID-HUMU17>3.0.CO;2-J"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/133.1.95"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(03)00057-4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2013.11.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394-318"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1530\/JME-14-0022"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-013-2805-z"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-015-0079-1"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24479"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40259-016-0161-x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp590"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1565"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.09.010"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.14"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1106173"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38370","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38370","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38370","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T22:32:47Z","timestamp":1693348367000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":18,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1002\/ajmg.a.38370"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38370","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8]]}}}