{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T04:54:57Z","timestamp":1697691297562},"reference-count":39,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2008,4,25]],"date-time":"2008-04-25T00:00:00Z","timestamp":1209081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a birth incidence of 1\/3,500. Around 50% of cases are due to new mutations. The <jats:italic>NF1<\/jats:italic> gene maps to 17q11.2 and encodes neurofibromin. <jats:italic>NF1<\/jats:italic> is a \u201cclassical\u201d tumor suppressor gene. Congenital disseminated NF1 is rare with just two cases previously reported. We present a deceased baby with congenital disseminated NF1 in whom we performed molecular studies. A germline mutation (R461X) in exon 10a of the <jats:italic>NF1<\/jats:italic> gene was found. A 2 bp deletion (3508delCA) in codon 1170 of exon 21 was identified in DNA derived from some tumor tissue. Loss of heterozygosity in <jats:italic>NF1<\/jats:italic> and <jats:italic>TP53<\/jats:italic> was observed in other tumor samples. No microsatellite instability was observed in the tumor samples. This is the first report of molecular analysis of the <jats:italic>NF1<\/jats:italic> locus in a patient with disseminated congenital neurofibromatosis. This case had a de novo germline mutation in <jats:italic>NF1<\/jats:italic> and three documented somatic mutations in the <jats:italic>NF1<\/jats:italic> and <jats:italic>TP53<\/jats:italic> genes in tumor specimens. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32305","type":"journal-article","created":{"date-parts":[[2008,4,25]],"date-time":"2008-04-25T22:46:42Z","timestamp":1209163602000},"page":"1444-1452","source":"Crossref","is-referenced-by-count":10,"title":["Congenital disseminated neurofibromatosis type 1: A clinical and molecular case 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