{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T06:49:45Z","timestamp":1789454985396,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T00:00:00Z","timestamp":1366329600000},"content-version":"vor","delay-in-days":108,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:p>Steinbusch CVM, van Roozendaal KEP, Tserpelis D, Smeets EEJ, Kranenburg\u2010de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RCM, Blok MJ, Schrander\u2010Stumpel CTRM. Somatic mosaicism in a mother of two children with Pitt\u2013Hopkins syndrome.<\/jats:p><jats:p>Pitt\u2013Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, unusual face and breathing abnormalities and can be caused by haploinsufficiency of <jats:italic>TCF4<\/jats:italic>. The majority of cases are sporadic. Somatic mosaicism was reported infrequently. We report on a proband with typical manifestations of PTHS and his younger brother with a less striking phenotype. In both, a heterozygous frameshift mutation (c.1901_1909delinsA, p.Ala634AspfsX67) was found in exon 19 of <jats:italic>TCF4<\/jats:italic>. The same mutation was found at low levels in DNA extracted from the mother's blood, urine and saliva. This report of familial recurrence with somatic mosaicism in a healthy mother has important consequences for genetic counseling. We suggest careful studies in parents of other patients with PTHS to determine the frequency of germline and somatic mosaicism for <jats:italic>TCF4<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01857.x","type":"journal-article","created":{"date-parts":[[2012,2,15]],"date-time":"2012-02-15T16:05:09Z","timestamp":1329321909000},"page":"73-77","source":"Crossref","is-referenced-by-count":31,"title":["Somatic mosaicism in a mother of two children with Pitt\u2013Hopkins syndrome"],"prefix":"10.1111","volume":"83","author":[{"given":"CVM","family":"Steinbusch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KEP","family":"van 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