{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:43:26Z","timestamp":1789991006658,"version":"4.0.1"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,10]],"date-time":"2005-06-10T00:00:00Z","timestamp":1118361600000},"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":[[2005,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) (OMIM#242860) is a rare autosomal, recessively inherited disorder. Another rare condition, ischiadic hypoplasia, renal dysgenesis, immunodeficiency, and polydactyly (IHRDIP, OMIM#243340), displays features that resemble those of the ICF syndrome. Due to the overlapping symptoms in both syndromes, we asked whether a shared underlying molecular defect exists. Two patients, each with the clinical characteristics of one of these syndromes, were subjected to conventional cytogenetic analysis and the determination of the methylation state of satellite II DNA. We found that both displayed the two hallmark features of the ICF syndrome, namely hypomethylation and centromeric instability of chromosomes 1 and 16. Therefore, we reclassified the patient previously diagnosed with the IHRDIP syndrome as an ICF patient. Since the majority of ICF patients are carriers of mutations in the methytransferase gene <jats:italic>DNMT3B<\/jats:italic>, we determined the sequence of its coding, splice site, and putative promoter region and analyzed its transcripts in both patients, without detecting any alterations. Similarly, the coding region of two DNMT3B\u2010interacting proteins, SUMO\u20101 and UBC9, did not reveal mutations. With this study, the published number of patients that lack mutations in <jats:italic>DNMT3B<\/jats:italic> coding region increases to almost 40% of all ICF patients reported. It is, therefore, implied that a significant subset of ICF patients will have a yet unknown, alternative alteration, which may include the involvement of DNMT3B\u2010interacting factors or aberrations of an independent pathway. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30767","type":"journal-article","created":{"date-parts":[[2005,6,10]],"date-time":"2005-06-10T21:17:01Z","timestamp":1118438221000},"page":"31-37","source":"Crossref","is-referenced-by-count":20,"title":["A new and a reclassified ICF patient without mutations in <i>DNMT3B<\/i> and its interacting proteins SUMO\u20101 and UBC9"],"prefix":"10.1002","volume":"136A","author":[{"given":"Barbara","family":"Kloeckener\u2010Gruissem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David 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