{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T20:01:35Z","timestamp":1776542495435,"version":"3.51.2"},"reference-count":30,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,12,1]]},"abstract":"<jats:p>Mutations of the <jats:italic>PTEN<\/jats:italic> gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of <jats:italic>PTEN<\/jats:italic> has been established in a wide variety of sporadically occurring neoplasia. CS and BRR share some clinical features, specifically hamartomata and lipomatosis. Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic <jats:italic>PTEN<\/jats:italic> mutations in several patients with Proteus syndrome. To this expanding array of clinically distinct phenotypes associated with <jats:italic>PTEN<\/jats:italic>mutations, we now report a novel heterozygous germline mutation, H61D, in a patient with features of VATER association with macrocephaly and ventriculomegaly.<\/jats:p>","DOI":"10.1136\/jmg.38.12.820","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:32:19Z","timestamp":1027751539000},"page":"820-823","source":"Crossref","is-referenced-by-count":94,"title":["A novel germline mutation of the <i>PTEN<\/i>gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association"],"prefix":"10.1136","volume":"38","author":[{"given":"William","family":"Reardon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Ping","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charis","family":"Eng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2001,12,1]]},"reference":[{"key":"2025101714355478000_38.12.820.1","doi-asserted-by":"publisher","DOI":"10.1126\/science.275.5308.1943"},{"key":"2025101714355478000_38.12.820.2","first-page":"2124","article-title":"TEP1, encoded by a candidate tumour suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor B.","volume":"57","author":"Li","year":"1997","journal-title":"Cancer Res"},{"key":"2025101714355478000_38.12.820.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0497-356"},{"key":"2025101714355478000_38.12.820.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-64"},{"key":"2025101714355478000_38.12.820.5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.507"},{"key":"2025101714355478000_38.12.820.6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440309"},{"key":"2025101714355478000_38.12.820.7","doi-asserted-by":"crossref","first-page":"13837","DOI":"10.1038\/ng0897-333","article-title":"Germline mutations in PTEN are present in Bannayan-Zonana syndrome.","volume":"16","author":"Marsh","year":"1997","journal-title":"Nat Genet"},{"key":"2025101714355478000_38.12.820.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.11.828"},{"key":"2025101714355478000_38.12.820.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.765"},{"key":"2025101714355478000_38.12.820.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)05412-5"},{"key":"2025101714355478000_38.12.820.11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430624"},{"key":"2025101714355478000_38.12.820.12","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1097\/00019605-199304000-00018","article-title":"Possible form of Fanconi pancytopenia as a phenocopy of the VACTERL association.","volume":"2","author":"Toriello","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"2025101714355478000_38.12.820.13","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.0.CO;2-U"},{"key":"2025101714355478000_38.12.820.14","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<86::AID-AJMG17>3.0.CO;2-K"},{"key":"2025101714355478000_38.12.820.15","first-page":"119A","article-title":"VACTERL association with hydrocephalus - a new recessive syndrome.","volume":"35","author":"Sujansky","year":"1983","journal-title":"Am J Hum Genet"},{"key":"2025101714355478000_38.12.820.16","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/(SICI)1096-8628(19960315)62:2<169::AID-AJMG10>3.0.CO;2-M","article-title":"VACTERL with hydrocephalus and branchial arch defects: prenatal clinical and autopsy findings in two brothers.","volume":"62","author":"Froster","year":"1996","journal-title":"Am J Med Genet"},{"key":"2025101714355478000_38.12.820.17","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1007\/BF01959368","article-title":"VACTERL plus hydrocephalus: a monogenic lethal condition.","volume":"151","author":"Kunze","year":"1992","journal-title":"Eur J Pediatr"},{"key":"2025101714355478000_38.12.820.18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470124"},{"key":"2025101714355478000_38.12.820.19","unstructured":"Winter RM Baraitser M (2001) London dysmorphology database. 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