The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Genetics in Medicine

Volumn 11, Issue 2, 2009, Pages 111-117

  Varga, Elizabeth A ^a,b   Pastore, Matthew ^b   Prior, Thomas ^b   Herman, Gail E ^a,b   McBride, Kim L ^a,b  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Autism; Developmental delay; Macrocephaly; PTEN

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADULT; ARTICLE; AUTISM; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DEVELOPMENTAL STAGE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; INFANT; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; MENTAL DEFICIENCY; PHENOTYPE; PRENATAL SCREENING;

AUTISTIC DISORDER; CHILD, PRESCHOOL; COHORT STUDIES; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; MALE; MENTAL RETARDATION; MUTATION; PREVALENCE; PTEN PHOSPHOHYDROLASE;

EID: 62149104335     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31818fd762     Document Type: Article

References (24)

1. Maehama T, Dixon JE. PTEN: a tumour suppressor that functions as a phospholipid phosphatase. Trends Cell Bio 1999;9:125-128.
2. Maehama T, Taylor GS, Dixon JE. PTEN and myotubularin: novel phosphoinositide phosphatases. Annu Rev Biochem 2001;70:247-279.
3. Barker KT, Houlston RS. Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism? Eur J Hum Genet 2003;11:665-670.
4. Zhou XP, Waite KA, Pilarski R, et al. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet 2003;73:404-411.
5. Lachlan KL, Lucassen AM, Bunyan D, Temple IK. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet 2007;44:579-585.
6. Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8: 1461-1472.
7. Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 2001;105: 521-524.
8. Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet 2001; 38:52-58.
9. Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1998;80:399-402.
10. Butler MG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005;42:318-321.
11. Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A. Increasing knowledge of PTEN germline mutations: two additional patients with autism and macrocephaly. Am J Med Genet A 2007;143:589-593.
12. Buxbaum JD, Cai G, Chaste P, et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet 2007;144:484-491.
13. Herman GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL. Genetic testing in autism: how much is enough? Genet Med 2007;9:268-274.
14. Zankl A, Molinari L. A Base - a tool for the rapid assessment of anthropometric measurements on handheld computers. Am J Med Genet A 2003;121:146-150.
15. Farkas LG. Anthropometry of the head and face, 2nd ed. New York: Raven Press, 1994.
16. Ogden CL, Kuczmarski RJ, Flegal KM, et al. Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version. Pediatrics 2002;109:45-60.
17. Sunyaev S, Ramensky V, Koch I, Lathe W III, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001;10:591-597.
18. Yeargin-Allsopp M, Rice C, Karapurkar T, Doemberg N, Boyle C, Murphy C. Prevalence of autism in a US metropolitan area. JAMA 2003;289:49-55.
19. Lord C, Risi S, Lambrecht L, et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000;30:205-223.
20. Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003;22:183-198.
21. Raizis AM, Ferguson MM, Robinson BA, Atkinson CH, George PM. Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjogren's syndrome. Mol Pathol 1998;51:339-341.
22. Delatycki MB, Danks A, Churchyard A, Zhou XP, Eng C. De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones. J Med Genet 2003;40:e92.
23. Martinez R, Schackert HK, von Kannen S, Lichter P, Joos S, Schackert G. Independent molecular development of metachronous glioblastomas with extended intervening recurrence-free interval. Brain Pathol 2003;13:598-607.
24. Tan WH, Baris HN, Burrows PE, et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet 2007;44:594-602.