{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T14:05:15Z","timestamp":1784729115069,"version":"3.55.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T00:00:00Z","timestamp":1441929600000},"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":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>The clinical diagnosis of Lujan\u2010Fryns syndrome (LFS) comprises X\u2010linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (<jats:italic>MED12<\/jats:italic>, <jats:italic>UPF3B<\/jats:italic>, and <jats:italic>ZDHHC9<\/jats:italic>) have been reported in \u201cbroadly defined\u201d LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan\u2010McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease\u2010causing. X\u2010exome sequencing of four individuals revealed private or non\u2010recurrent mutations in <jats:italic>NKAP<\/jats:italic> and <jats:italic>LAS1L<\/jats:italic> in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X\u2010linked segregation of the disorder or an unambiguously pathogenic mutation in the <jats:italic>MED12<\/jats:italic>. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37378","type":"journal-article","created":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T07:29:04Z","timestamp":1441956544000},"page":"94-102","source":"Crossref","is-referenced-by-count":18,"title":["Tentative clinical diagnosis of Lujan\u2010Fryns syndrome\u2014A conglomeration of different genetic entities?"],"prefix":"10.1002","volume":"170","author":[{"given":"Karl","family":"Hackmann","sequence":"first","affiliation":[{"name":"Institut fuer Klinische Genetik Medizinische Fakultaet Carl Gustav Carus Technische Universitaet Dresden Dresden 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