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Frequency of PTEN Gene Mutations in Children with Autism Spectrum Disorder, Intellectual Disabilities, and Global Developmental Delays in the Presence of Macrocephaly

Dillahunt, Kyle D
http://rave.ohiolink.edu/etdc/view?acc_num=osu1491991439195058

Abstract Details

2017, Master of Science, Ohio State University, Genetic Counseling.
Purpose: To assess the frequency of PTEN pathogenic variants in a cohort of pediatric subjects with autism spectrum disorder (ASD), intellectual disabilities (ID), and/or global developmental delays (GDD), in the presence of macrocephaly. Methods: Retrospective chart review of subjects who were evaluated through the Nationwide Children’s Hospital Child Development Center between January 1, 2015 and June 30, 2016 and received a diagnosis of ASD, ID, and/or GDD, and had macrocephaly. Medical record was abstracted to determine whether PTEN gene analysis was ordered, if testing was completed, and the results of testing. Results: One hundred eight subjects who met the study criteria had PTEN genetic testing ordered during this period. Fifty-eight subjects completed PTEN genetic testing. No PTEN pathogenic variants were identified (0/58; 95% CI: 0.0-6.3). Discussion/Conclusion: This data revealed that the frequency of PTEN pathogenic variants in subjects with a diagnosis of ASD, ID, and/or GDD in the presence of macrocephaly is less than the previously reported estimate of 10% in the literature.
Dawn Allain, MS, LGC (Advisor)
Emily Hansen-Kiss, MS, MA, LGC (Committee Member)
Robert Pilarski, MS, LGC; MSW (Committee Member)
Karen Ratliff-Schaub, MD (Committee Member)
44 p.
Genetics
PTEN; PTEN Hamartomatous Tumor syndrome; autism spectrum disorder; ASD; intellectual disabilities; ID; Global developmental delays; GDD; macrocephaly; frequency of PTEN gene mutations

Recommended Citations

Citations

  • Dillahunt, K. D. (2017). Frequency of PTEN Gene Mutations in Children with Autism Spectrum Disorder, Intellectual Disabilities, and Global Developmental Delays in the Presence of Macrocephaly [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1491991439195058

    APA Style (7th edition)

  • Dillahunt, Kyle. Frequency of PTEN Gene Mutations in Children with Autism Spectrum Disorder, Intellectual Disabilities, and Global Developmental Delays in the Presence of Macrocephaly. 2017. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1491991439195058.

    MLA Style (8th edition)

  • Dillahunt, Kyle. "Frequency of PTEN Gene Mutations in Children with Autism Spectrum Disorder, Intellectual Disabilities, and Global Developmental Delays in the Presence of Macrocephaly." Master's thesis, Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1491991439195058

    Chicago Manual of Style (17th edition)

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This open access ETD is published by The Ohio State University and OhioLINK.