{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:08:20Z","timestamp":1791259700357,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,18]],"date-time":"2011-02-18T00:00:00Z","timestamp":1297987200000},"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":[[2011,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Neurofibromatosis 1 (NF1) is a common autosomal dominant disorder with high penetrance but extreme variability of expression. Monozygotic (MZ) twins with NF1 who have phenotypic discordances are a useful tool in evaluating which traits are influenced by non\u2010hereditary influences such as second hit somatic events, environmental agents, epigenetic modification, or post\u2010zygotic mutations. We evaluated nine sets of MZ twins and one set of MZ triplets, ages 4\u201318 years, for NF1 features and calculated probandwise concordance (P\n                    <jats:sub>C<\/jats:sub>\n                    ) for each feature. MZ twins were highly concordant in numbers of caf\u00e9\u2010au\u2010lait spots (P\n                    <jats:sub>C<\/jats:sub>\n                    \u2009=\u20090.89) and cutaneous neurofibromas. IQ scores were within 10 points for all twin pairs tested, and similar patterns of learning disabilities and speech disorders were observed. Twin pairs showed significant discordance for tumors, particularly plexiform neurofibromas (P\n                    <jats:sub>C<\/jats:sub>\n                    \u2009=\u20090.40) and malignant peripheral nerves sheath tumors (MPNST), as expected if post\u2010natal second\u2010hit events were contributing to these features. One set of twins was concordant for multiple, large paraspinal neurofibromas, suggesting that there may be more hereditary factors involved in production of paraspinal neurofibromas. Four sets were concordant for pectus deformities of the chest (P\n                    <jats:sub>C<\/jats:sub>\n                    \u2009=\u20090.80). Three sets of twins were discordant for scoliosis (P\n                    <jats:sub>C<\/jats:sub>\n                    \u2009=\u20090.40); an additional set was concordant for scoliosis but differed in presence of dystrophic features and need for surgery. Our data suggest there are additional non\u2010hereditary factors modifying the NF1 phenotype and causing discordancies between MZ twins. Future studies may focus on differences in epigenetic changes or somatic mosaicism which have been documented for other disease genes in MZ twins. \u00a9 2011 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.33851","type":"journal-article","created":{"date-parts":[[2011,2,18]],"date-time":"2011-02-18T15:07:41Z","timestamp":1298041661000},"page":"478-485","source":"Crossref","is-referenced-by-count":59,"title":["Variable expression of neurofibromatosis 1 in monozygotic twins"],"prefix":"10.1002","volume":"155","author":[{"given":"Margaret B.","family":"Rieley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H.","family":"Viskochil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brad 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