{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:11:00Z","timestamp":1758161460699,"version":"3.44.0"},"reference-count":16,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","funder":[{"name":"NUHS Allied Health and Nursing Grant 2014","award":["NUHSRO\/2015\/046\/AHN\/03"],"award-info":[{"award-number":["NUHSRO\/2015\/046\/AHN\/03"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in the PHEX gene are causative of X-linked hypophosphatemic rickets (XLH). We present a case of a 2-year-old girl with hypophosphatemic rickets with genu varum and short stature without any family history of XLH. Next generation sequencing of the PHEX gene identified a splice donor variant, NM_000444.6:c.1173\u2009+\u20095G\u2009&gt;\u2009A in intron 10. This variant had a mosaic pattern with only 22% of the sequence reads showing the variant allele and was not present in the girl's parents, both of whom had a normal phenotype. This is a sporadic case of a de novo mosaic splice-site variant in the PHEX gene.<\/jats:p>","DOI":"10.1055\/s-0041-1728746","type":"journal-article","created":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T20:45:51Z","timestamp":1622580351000},"page":"308-311","source":"Crossref","is-referenced-by-count":0,"title":["A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl"],"prefix":"10.53391","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0873-2682","authenticated-orcid":false,"given":"Kok-Siong","family":"Poon","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, National University Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7768-037X","authenticated-orcid":false,"given":"Karen Mei-Ling","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, National University Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Zacharin","sequence":"additional","affiliation":[{"name":"Department of Hormone Research, Murdoch Children's Research Institute, Melbourne, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Victoria, Australia"},{"name":"Department of Endocrinology & Diabetes, The Royal Children's Hospital, Melbourne, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9121-196X","authenticated-orcid":false,"given":"Cindy Wei-Li","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore"},{"name":"Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,6,1]]},"reference":[{"issue":"03","key":"ref1","first-page":"529","article-title":"Rickets resistant to vitamin D therapy","volume":"54","author":"F Albright","year":"1937","journal-title":"Am J Dis Child"},{"issue":"11","key":"ref2","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.2215\/CJN.03000509","article-title":"The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport","volume":"4","author":"B S Levine","year":"2009","journal-title":"Clin J Am Soc Nephrol"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00590-014-1496-y","article-title":"Hypophosphatemic rickets: etiology, clinical features and treatment","volume":"25","author":"V Pavone","year":"2015","journal-title":"Eur J Orthop Surg Traumatol"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s13023-019-1014-8","article-title":"FGF23 and its role in X-linked hypophosphatemia-related morbidity","volume":"14","author":"S S Beck-Nielsen","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"21","key":"ref5","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1056\/NEJMoa1714641","article-title":"Burosumab therapy in children with X-linked hypophosphatemia","volume":"378","author":"T O Carpenter","year":"2018","journal-title":"N Engl J Med"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1210\/jc.2005-1776","article-title":"Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait","volume":"91","author":"K Goji","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"03","key":"ref7","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/jhg.2015.133","article-title":"A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets","volume":"61","author":"C Weng","year":"2016","journal-title":"J Hum Genet"},{"issue":"11","key":"ref8","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1007\/s40618-020-01240-6","article-title":"Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia","volume":"43","author":"Y Lin","year":"2020","journal-title":"J Endocrinol Invest"},{"issue":"01","key":"ref9","first-page":"70","article-title":"Mosaicism in 2 cases of X-linked hypophosphatemia","volume":"67","author":"J J Broseta","year":"2020","journal-title":"Endocrinol Diabetes Nutr"},{"issue":"04","key":"ref10","doi-asserted-by":"crossref","first-page":"229","DOI":"10.6065\/apem.2018.23.4.229","article-title":"A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets","volume":"23","author":"M Yang","year":"2018","journal-title":"Ann Pediatr Endocrinol Metab"},{"issue":"07","key":"ref11","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/s41581-019-0152-5","article-title":"Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia","volume":"15","author":"D Haffner","year":"2019","journal-title":"Nat Rev Nephrol"},{"issue":"03","key":"ref12","doi-asserted-by":"crossref","first-page":"2324709615598167","DOI":"10.1177\/2324709615598167","article-title":"Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant","volume":"3","author":"K S Poon","year":"2015","journal-title":"J Investig Med High Impact Case Rep"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.bone.2019.01.021","article-title":"Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia","volume":"121","author":"C Zhang","year":"2019","journal-title":"Bone"},{"issue":"09","key":"ref14","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"F O Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"issue":"05","key":"ref15","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"issue":"01","key":"ref16","doi-asserted-by":"crossref","first-page":"K1","DOI":"10.1530\/EJE-19-0472","article-title":"'Isolated' germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets","volume":"182","author":"Y Lin","year":"2020","journal-title":"Eur J Endocrinol"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1728746.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:46:03Z","timestamp":1758138363000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1728746"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,1]]},"references-count":16,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2023,12,29]]},"published-print":{"date-parts":[[2023,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1728746","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2021,6,1]]}}}