Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly

American Journal of Medical Genetics, Part A

Volumn 143, Issue 6, 2007, Pages 589-593

  Herman, Gail E ^a,b   Butter, Eric ^a   Enrile, Benedicta ^a   Pastore, Matthew ^a   Prior, Thomas W ^a   Sommer, Annemarie ^a  

^a OHIO STATE UNIVERSITY   (United States)

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

Author keywords

Autism; Macrocephaly; PTEN

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MACROCEPHALY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTEN GENE; TUMOR SUPPRESSOR GENE;

ABNORMALITIES, MULTIPLE; AUTISTIC DISORDER; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; LEARNING DISORDERS; MALE; PTEN PHOSPHOHYDROLASE;

EID: 33847342035     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31619     Document Type: Article

References (31)

1. Abdul-Rahman OA, Hudgins L. 2006. The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Genet Med 8:50-54.
2. AGRE. 2006. Autism Genetics Resource Exchange: Index of Protocols. http://www.agre.org/program/indeval.cfm?do=program.
3. Battaglia A, Bonaglia MC. 2006. The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders. Am J Med Genet Part C Semin Med Genet 142C:8-12.
4. Battaglia A, Carey JC. 2006. Etiologic yield of autistic spectrum disorders: A prospective study. Am J Med Genet Part C Semin Med Genet 142C:3-7.
5. Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. 2005. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 42:318-321.
6. Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcon M, Nelson SF, Geschwind DH. 2005. Replication of autism linkage: Fine-mapping peak at 17q21. Am J Hum Genet 76:1050-1056.
7. Challman TD, Barbaresi WJ, Katusic SK, Weaver A. 2003. The yield of the medical evaluation of children with pervasive developmental disorders. J Autism Dev Disord 33:187-192.
8. Cohen D, Pichard N, Tordjman S, Baumann C, Burglen L, Excoffier E, Lazar G, Mazet P, Pinquier C, Verloes A, Heron A. 2005. Specific genetic disorders and autism: Clinical contribution towards their identification. J Autism Dev Disord 35:103-116.
9. Cully M, You H, Levine AJ, Mak TW. 2006. Beyond PTEN mutations: The PI3K pathway as an integrator of multiple inputs during tumorigenesis. Nat Rev Cancer 6:184-192.
10. Dasouki MJ, Ishmael H, Eng C. 2001. Macrocephaly, macrosomia and autistic behavior clue to a de novo PTEN germline mutation. Am J Hum Genet 69:A564.
11. Eng C. 2003. PTEN: One gene, many syndromes. Hum Mutat 22:183-198.
12. Eng C, Hampel H, de la Chapelle A. 2001. Genetic testing for cancer predisposition. Annu Rev Med 52:371-400.
13. Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P, Ducat L, Spence SJ. 2001. The autism genetic resource exchange: A resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet 69:463-466.
14. Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP. 2001. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 105:521-524.
15. IMGSAC. 2001. A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 69:570-581.
16. Kwon CH, Luikart BW, Powell CM, Zhou J, Matheny SA, Zhang W, Li Y, Baker SJ, Parada LF. 2006. Pten regulates neuronal arborization and social interaction in mice. Neuron 50:377-388.
17. Lainhart JE. 2006. Advances in autism neuroimaging research for the clinician and geneticist. Am J Med Genet Part C 142:33-39.
18. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E. 1989. Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 19:185-212.
19. Maehama T, Dixon JE. 1999. PTEN: A tumour suppressor that functions as a phospholipid phosphatase. Trends Cell Biol 9:125-128.
20. McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, Folstein SE, Haines JL, Sutcliffe JS. 2005. Genome-wide and ordered-subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet 6:1-11.
21. MMWR. 2006. Mental health in the United States: Parental report of diagnosed autism in children aged 4-17 years-United States, 2003-2004. MMWR Morb Mortal Wkly Rep 55:481-486.
22. Muhle R, Trentacoste SV, Rapin I. 2004. The genetics of autism. Pediatrics 113:e472-486.
23. Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Madman EC, Padberg GW, Kremer H. 1997. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 6:1383-1387.
24. Pilarski R, Eng C. 2004. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 41:323-326.
25. Spence SJ. 2004. The genetics of autism. Semin Pediatr Neurol 11:196-204.
26. Stiles B, Groszer M, Wang S, Jiao J, Wu H. 2004. PTENless means more. Dev Biol 273:175-184.
27. Waite KA, Eng C. 2002. Protean PTEN: Form and function. Am J Hum Genet 70:829-844.
28. Wassink TH, Brzustowicz LM, Bartlett CW, Szatmari P. 2004. The search for autism disease genes. Ment Retard Dev Disabil Res Rev 10:272-283.
29. Ylisaukko-Oja T, Alarcon M, Cantor RM, Auranen M, Vanhala R, Kempas E, von Wendt L, Jarvela I, Geschwind DH, Peltonen L. 2006. Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families. Ann Neurol 59:145-155.
30. Zbuk KM, Stein JL, Eng C. 2006. PTEN hamartoma tumor syndrome (PHTS). In: Gene Reviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online] Copyright. University of Washington, Seattle. Available at http://www.geneclinics.org.
31. Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C. 1998. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 80:399-402.