{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:47:08Z","timestamp":1792043228503,"version":"4.4.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the <jats:italic>CYP24A1<\/jats:italic> gene (20q13.2) or in the <jats:italic>SLC34A1<\/jats:italic> gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria and nephrocalcinosis in paediatric patients.<\/jats:p>\n                <jats:p>Maternal uniparental disomy of chromosome 20 [UPD(20)mat], resulting in aberrant expression of imprinted transcripts at the <jats:italic>GNAS<\/jats:italic> locus, is a poorly characterized condition. UPD(20)mat patients manifest a phenotype similar to that of Silver-Russell syndrome and small for gestational age-short stature.\n<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report here the genetic and clinical characterization of a male child with a phenotype of infantile hypercalcemia, postnatal growth retardation, and minor dysmorphic features. Genetic analysis using a next generation sequencing panel revealed a homozygous pathogenic variant of <jats:italic>CYP24A1<\/jats:italic>. The absence of the variant in the father led to microsatellite segregation analysis, suggestive of UPD. SNP-array revealed a large terminal copy neutral loss of heterozygosity leading to <jats:italic>CYP24A1<\/jats:italic> homozygosity. SNP-array data of parent\u2013child trio confirmed a UPD(20)mat responsible for both infantile hypercalcemia and Silver-Russell syndrome-like traits.\n<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This is the first report of uniparental disomy of chromosome 20 revealed by infantile hypercalcemia related to <jats:italic>CYP24A1<\/jats:italic> biallelic homozygous variants, underlying the importance of controlling allelic segregation in cases of homozygosity.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-021-00543-4","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T17:02:52Z","timestamp":1620234172000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20"],"prefix":"10.1186","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6444-2911","authenticated-orcid":false,"given":"Marguerite","family":"Hureaux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Chantot-Bastaraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e9vin","family":"Cassinari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edouard","family":"Martinez Casado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Cuny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Fr\u00e9bourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Claire","family":"Br\u00e9hin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,5,5]]},"reference":[{"issue":"11","key":"543_CR1","doi-asserted-by":"publisher","first-page":"1650","DOI":"10.1515\/cclm-2018-1208","volume":"57","author":"E De Paolis","year":"2019","unstructured":"De Paolis E, Scaglione GL, De Bonis M, Minucci A, Capoluongo E. CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype. Clin Chem Lab Med. 2019;57(11):1650\u201367. https:\/\/doi.org\/10.1515\/cclm-2018-1208.","journal-title":"Clin Chem Lab Med"},{"issue":"4","key":"543_CR2","doi-asserted-by":"publisher","first-page":"1095","DOI":"10.1016\/j.ecl.2017.07.011","volume":"46","author":"G Jones","year":"2017","unstructured":"Jones G, Kottler ML, Schlingmann KP. Genetic diseases of vitamin D metabolizing enzymes. Endocrinol Metab Clin North Am. 2017;46(4):1095\u2013117. https:\/\/doi.org\/10.1016\/j.ecl.2017.07.011.","journal-title":"Endocrinol Metab Clin North Am"},{"issue":"5","key":"543_CR3","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1056\/NEJMoa1103864","volume":"365","author":"KP Schlingmann","year":"2011","unstructured":"Schlingmann KP, Kaufmann M, Weber S, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. 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