Varga Elizabeth A, Pastore Matthew, Prior Thomas, Herman Gail E, McBride Kim L
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
Genet Med. 2009 Feb;11(2):111-7. doi: 10.1097/GIM.0b013e31818fd762.
To define the prevalence of PTEN mutations in a clinical cohort of pediatric subjects with autism spectrum disorders (ASDs), developmental delay/mental retardation (DD/MR), and/or macrocephaly and to assess genotype-phenotype correlations.
Medical records of patients who had clinical PTEN gene sequencing ordered through our institution between January 1, 2005 and December 31, 2007 were abstracted to confirm genetic test results and medical diagnoses. Phenotypic information related to the diagnoses, prenatal history, early developmental milestones, physical characteristics, and family history for those with a confirmed PTEN mutation was also recorded.
One hundred fourteen patients were tested during this time period for indications of ASDs (N = 60), DD/MR (N = 49), or macrocephaly only (N = 5). Eleven mutations were identified: five in patients with ASDs and six in those with DD/MR, resulting in a prevalence of 8.3% and 12.2% in these respective clinical populations. All individuals with a PTEN mutation had significant macrocephaly (>2.0 SD) CONCLUSIONS: These data illustrate that PTEN gene sequencing has a high diagnostic yield when performed in a selected population of individuals with ASDs or DD/MR and macrocephaly. Germline mutations in PTEN are an important, identifiable etiology among these patients.
确定自闭症谱系障碍（ASD）、发育迟缓/智力障碍（DD/MR）和/或巨头症的儿科临床队列中PTEN突变的患病率，并评估基因型与表型的相关性。
提取2005年1月1日至2007年12月31日期间通过本机构进行临床PTEN基因测序的患者的病历，以确认基因检测结果和医学诊断。还记录了与确诊为PTEN突变的患者的诊断、产前史、早期发育里程碑、身体特征和家族史相关的表型信息。
在此期间，对114名患者进行了检测，以确定是否患有ASD（n = 60）、DD/MR（n = 49）或仅巨头症（n = 5）。共鉴定出11个突变：ASD患者中有5个，DD/MR患者中有6个，在这些临床人群中的患病率分别为8.3%和12.2%。所有PTEN突变的个体均有显著的巨头症（>2.0标准差）。结论：这些数据表明，在选定的患有ASD或DD/MR及巨头症的个体人群中进行PTEN基因测序具有较高的诊断率。PTEN的种系突变是这些患者中一个重要的、可识别的病因。
