{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:05:07Z","timestamp":1791115507162,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,11,10]],"date-time":"2005-11-10T00:00:00Z","timestamp":1131580800000},"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":[[2005,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report on a nonconsanguineous family in which two siblings with cutaneous manifestations leading to a diagnosis of neurofibromatosis type 1 (NF1) developed CNS tumors at an early age. In addition, one of them developed a T\u2010cell lymphoma. Neither parent had NF1. The mother was known to be heterozygous for a\n                    <jats:italic>MSH6<\/jats:italic>\n                    mutation, and the father was found to be heterozygous for a different\n                    <jats:italic>MSH6<\/jats:italic>\n                    mutation. Screening of\n                    <jats:italic>MSH2, MLH1, MSH6, PMS1, PMS2<\/jats:italic>\n                    , and\n                    <jats:italic>MLH3<\/jats:italic>\n                    in the affected children disclosed that they both were compound heterozygote for the\n                    <jats:italic>MSH6<\/jats:italic>\n                    mutations of their parents. Most recently, about a dozen other cases of inherited bi\u2010allelic deficiency of mismatch repair (MMR) genes associated with early onset CNS tumors, hematologic malignancy, gastrointestinal neoplasia, caf\u00e9\u2010au\u2010lait spots, and other NF1 features have been reported. In the present study, we summarize the clinical findings of 27 individuals homozygous or compound heterozygous for an MMR gene mutation reported in the medical literature. We suggest that biparentally inherited mutations of one of the MMR genes should be considered in children with multiple caf\u00e9\u2010au\u2010lait spots who have early\u2010onset CNS tumors, hematologic malignancies, or early onset gastrointestinal neoplasia. \u00a9 2005 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.30998","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T17:55:06Z","timestamp":1132163706000},"page":"96-105","source":"Crossref","is-referenced-by-count":63,"title":["Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in\n                    <i>MSH6<\/i>"],"prefix":"10.1002","volume":"139A","author":[{"given":"John R.","family":"\u00d8stergaard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lone","family":"Sunde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Okkels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,11,10]]},"reference":[{"issue":"2","key":"e_1_2_6_2_1","first-page":"21","article-title":"Identification of two new PMS2 mutations in a suspected Turcot's syndrome","volume":"2","author":"Agostini M","year":"2003","journal-title":"Fam 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