{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T07:07:35Z","timestamp":1767856055733,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T00:00:00Z","timestamp":1492560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002839","name":"Charit\u00e9 Universit\u00e4tsmedizin Berlin","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002839","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pierre\u2013Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel\u2013Manzke syndrome. Although mutations in <jats:italic>TGDS<\/jats:italic> were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre\u2013Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation. Postmortem radiographs showed hypoplasia and V\u2010shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. The suggested diagnosis Catel\u2013Manzke syndrome was confirmed by the detection of two compound heterozygous mutations in <jats:italic>TGDS<\/jats:italic>: The known variant c.298G&gt;T; p.(Ala100Ser) and the so far undescribed variant c.895G&gt;A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. This is the first report on the association of mutations in <jats:italic>TGDS<\/jats:italic> with additional anomalies of the middle fingers and halluces. We provide a detailed phenotypic characterization of the only fetus with molecularly confirmed Catel\u2013Manzke syndrome, which is relevant for prenatal diagnosis. Our findings widen the phenotype spectrum caused by <jats:italic>TGDS<\/jats:italic> mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel\u2013Manzke syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38209","type":"journal-article","created":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T12:20:45Z","timestamp":1492604445000},"page":"1694-1697","source":"Crossref","is-referenced-by-count":12,"title":["Mutations in <i>TGDS<\/i> associated with additional malformations of the middle fingers and halluces: Atypical Catel\u2013Manzke syndrome in a fetus"],"prefix":"10.1002","volume":"173","author":[{"given":"Katharina","family":"Schoner","sequence":"first","affiliation":[{"name":"Institute of Pathology Fetal pathology Philipp University of Marburg Universit\u00e4tsklinikum Gie\u00dfen und Marburg Standort Marburg Marburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer","family":"Bald","sequence":"additional","affiliation":[{"name":"Clinic of Gynecology and Prenatal Medicine Klinikum Leverkusen Leverkusen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helga","family":"Rehder","sequence":"additional","affiliation":[{"name":"Institute of Pathology Fetal pathology Philipp University of Marburg Universit\u00e4tsklinikum Gie\u00dfen und Marburg Standort Marburg Marburg Germany"},{"name":"Institute of Medical Genetics Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uwe","family":"Kornak","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Berlin\u2010Brandenburg Center for Regenerative Therapies \u2212 BCRT Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Max Planck Institute for Molecular Genetics Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1449-9909","authenticated-orcid":false,"given":"Nadja","family":"Ehmke","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Berlin Institute of Health (BIH) Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33264"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442455"},{"key":"e_1_2_6_5_1","unstructured":"CatelW.1961. Differentialdiagnose von Krankheitssymptomen bei Kindern und Jugendlichen.Stuttgart:G. Thieme."},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200410000-00007"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01244.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.11.004"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-440X(00)00145-7"},{"key":"e_1_2_6_10_1","first-page":"3","article-title":"Facial clefting and its syndromes","volume":"7","author":"Gorlin R. J.","year":"1971","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_6_11_1","first-page":"253","article-title":"The Pierre Robin syndrome: Unusual associated developmental defects","volume":"15","author":"Holthusen W.","year":"1972","journal-title":"Annales de Radiologie"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3283458946"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34163"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000010"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.101"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1227991"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.03.005"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35504"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2015.08.003"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200310000-00015"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520104"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.09.010"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200510000-00010"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38209","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:10:01Z","timestamp":1696590601000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,19]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1002\/ajmg.a.38209"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38209","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,19]]}}}