TY - JOUR T1 - A novel germline mutation of the <em>PTEN</em>gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association JF - Journal of Medical Genetics JO - J Med Genet SP - 820 LP - 823 DO - 10.1136/jmg.38.12.820 VL - 38 IS - 12 AU - William Reardon AU - Xiao-Ping Zhou AU - Charis Eng Y1 - 2001/12/01 UR - http://jmg.bmj.com/content/38/12/820.abstract N2 - Mutations of the PTEN 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 PTEN 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 PTEN mutations in several patients with Proteus syndrome. To this expanding array of clinically distinct phenotypes associated with PTENmutations, we now report a novel heterozygous germline mutation, H61D, in a patient with features of VATER association with macrocephaly and ventriculomegaly. ER -