{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:46:42Z","timestamp":1792043202226,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,12,23]],"date-time":"2009-12-23T00:00:00Z","timestamp":1261526400000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Uniparental isodisomy arises when an individual inherits two copies of a specific chromosome from a single parent, which can unmask a recessive mutation or cause a problem of genetic imprinting. Here we describe an exceptional case in which the patient simultaneously presents tyrosinemia type 1 and Angelman syndrome. The genetic studies showed that the patient presents paternal uniparental isodisomy of chromosome 15, with absence of the maternal homolog. As a consequence of this isodisomy, the patient is homozygous for the mutation IVS12+5G&gt;A in the <jats:italic>FAH<\/jats:italic> gene, located in the chromosomal region 15q23\u201025, causing tyrosinemia type 1. The mutation was inherited from his father in double dosage, whereas the mother is not a carrier, which implies that the recurrence risk in the family is negligible. On the other hand, the lack of maternal contribution causes Angelman syndrome, a neurodevelopmental disorder associated with a loss of maternal gene expression in chromosome region 15q11\u2010q13, and more specifically, of the <jats:italic>UBE3A<\/jats:italic> gene. This gene shows a tissue\u2010specific imprinting, and only the maternally derived allele is expressed in certain areas of the brain. We observed through a literature review that uniparental disomy probably occurs more frequently than suspected, although it is more usually detected when the uniparental disomy implies the appearance of a disease because of the gene imprinting or by reduction to homozygosity of a recessive mutation. The conclusion is that uniparental disomy should always be considered when more than one genetic disease mapping to the same chromosome is present in a patient.<\/jats:p>","DOI":"10.1007\/s10545-009-9014-9","type":"journal-article","created":{"date-parts":[[2009,12,22]],"date-time":"2009-12-22T08:56:44Z","timestamp":1261472204000},"page":"349-353","source":"Crossref","is-referenced-by-count":4,"title":["Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15"],"prefix":"10.1002","volume":"32","author":[{"given":"Irene","family":"Ferrer\u2010Bolufer","sequence":"first","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal, Hospital Universitario La Fe Avda. Campanar, 21 Valencia 46009 Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Dalmau","sequence":"additional","affiliation":[{"name":"Unidad de Nutrici\u00f3n y Metabolopat\u00edas Cong\u00e9nitas, Hospital Universitario La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramiro","family":"Quiroga","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal, Hospital Universitario La Fe Avda. Campanar, 21 Valencia 46009 Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvestre","family":"Oltra","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal, Hospital Universitario La Fe Avda. Campanar, 21 Valencia 46009 Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Orellana","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal, Hospital Universitario La Fe Avda. Campanar, 21 Valencia 46009 Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Monfort","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal, Hospital Universitario La Fe Avda. Campanar, 21 Valencia 46009 Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Rosell\u00f3","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal, Hospital Universitario La Fe Avda. Campanar, 21 Valencia 46009 Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"De La Osa","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Neuropediatr\u00eda, Hospital Universitario La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Martinez","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal, Hospital Universitario La Fe Avda. Campanar, 21 Valencia 46009 Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,12,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.11.895"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.87"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201619"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.2337\/db07-0998"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-70"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2006.10.174"},{"key":"e_1_2_6_9_1","first-page":"1777","volume-title":"The metabolic & molecular bases of inherited disease","author":"Mitchell GA","year":"2001"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218833"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570505.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.2.106"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31912"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80259-4"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20302"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9014-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:16:32Z","timestamp":1694747792000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-9014-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12]]},"references-count":14,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-009-9014-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-9014-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12]]}}}