{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:46:46Z","timestamp":1792043206675,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T00:00:00Z","timestamp":1407974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"INCA\/MS"},{"name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico (CNPq)","award":["476808\/2010-3"],"award-info":[{"award-number":["476808\/2010-3"]}]},{"name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado do Rio de Janeiro (FAPERJ)","award":["E26\/110.535\/2012"],"award-info":[{"award-number":["E26\/110.535\/2012"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Segmental uniparental isodisomy (iUPD) is a rare genetic event that may cause aberrant expression of imprinted genes, and reduction to homozygosity of a recessive mutation. Transient neonatal diabetes mellitus (TNDM) is typically caused by imprinting aberrations in chromosome 6q24 TNDM differentially\u2010methylated region (DMR). Approximately, 15.12\u2009Mb upstream in 6q22\u2010q23 is located\n                      <jats:italic>LAMA2<\/jats:italic>\n                      , the gene responsible of merosin\u2010deficient congenital muscular dystrophy type 1A (MDC1A). We investigated a patient diagnosed both with TNDM and MDC1A, born from a twin dichorionic discordant pregnancy. Parents are first\u2010degree cousins. Methylation sensitive\u2010PCR of the imprinted 6q24 TNDM CpG island showed only the non\u2010methylated (paternal) allele. Microsatellite markers and SNP array profiling disclosed normal biparental inheritance at 6p and a segmental paternal iUPD, between 6q22.33 and 6q27. Sequencing of\n                      <jats:italic>LAMA2<\/jats:italic>\n                      exons showed a homozygous frameshift mutation, c.7490_7493dupAAGA, which predicts p.Asp2498GlufsX4, in exon 54. Her father, but not her mother, was a carrier of the mutation. While segmental paternal iUPD6 causing TNDM was reported twice, there are no previous reports of MDC1A caused by this event. This is a child with two genetic disorders, yet neither is caused by the parental consanguinity, which reinforces the importance of considering different etiological mechanisms in the genetic clinic. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36716","type":"journal-article","created":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T13:05:38Z","timestamp":1408021538000},"page":"2908-2913","source":"Crossref","is-referenced-by-count":7,"title":["Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin\u2010deficient congenital muscular dystrophy"],"prefix":"10.1002","volume":"164","author":[{"given":"Raissa Coelho","family":"Andrade","sequence":"first","affiliation":[{"name":"Genetics Division Instituto Nacional de C\u00e2ncer Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"INGEMM Instituto de Gen\u00e9tica M\u00e9dica y Molecular IdiPAZ\u2010CIBERER Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Ang\u00e9lica","family":"de Faria Domingues de Lima","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Biology Department Universidade Federal do Estado do Rio de Janeiro Rio de Janeiro Brazil"},{"name":"Programa de Internato em Gen\u00e9tica Universidade UnigranRio Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00e2nia","family":"Saad","sequence":"additional","affiliation":[{"name":"Neuropediatrics Service Instituto Fernandes Figueira Funda\u00e7\u00e3o Oswaldo Cruz Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Moraes","sequence":"additional","affiliation":[{"name":"Medical Genetics Center Instituto Fernandes Figueira Funda\u00e7\u00e3o Oswaldo Cruz Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Chimelli","sequence":"additional","affiliation":[{"name":"Pathology Department Medical School Universidade Federal do Rio de Janeiro Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"INGEMM Instituto de Gen\u00e9tica M\u00e9dica y Molecular IdiPAZ\u2010CIBERER Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando Regla","family":"Vargas","sequence":"additional","affiliation":[{"name":"Genetics Division Instituto Nacional de C\u00e2ncer Rio de Janeiro Brazil"},{"name":"Genetics and Molecular Biology Department Universidade Federal do Estado do Rio de Janeiro Rio de Janeiro Brazil"},{"name":"Birth Defects Epidemiology Laboratory Funda\u00e7\u00e3o Oswaldo Cruz Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200743"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.12.011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/316897"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-010-1853-2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.2337\/db07-0043"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.02.001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058016"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-3-8"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.187"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1236-1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01068.x"},{"key":"e_1_2_6_13_1","volume-title":"GeneReviews\u00ae","author":"Quijano\u2010Roy 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